Is SLC2A10 p.Pro211= (c.633G>A) pathogenic?

SLC2A10 p.Pro211= (c.633G>A) is classified Likely benign in SLC2A10 (ClinVar, Multiple submitters, 6 submitters; last evaluated 2026-01-05). Ultra-rare (popmax 0.0164%, mid); Associated with arterial tortuosity syndrome.

What condition is associated with SLC2A10 p.Pro211= (c.633G>A)?

SLC2A10 p.Pro211= (c.633G>A) is associated with arterial tortuosity syndrome, familial thoracic aortic aneurysm and aortic dissection (ClinVar).

How common is SLC2A10 p.Pro211= (c.633G>A) in the general population?

SLC2A10 p.Pro211= (c.633G>A) is ultra-rare (popmax 0.0164%, mid) (gnomAD).

SLC2A10 p.Pro211=

c.633G>A · rs770919957 · VCV261938

Likely benign Multiple submitters

Classification

Likely benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 6 submitters

gnomAD v4.1

Rare

ultra-rare (popmax 0.0164%, mid)

Conditions

arterial tortuosity syndrome

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP -0.79	GERP -3.9
Overall
CADD	2.781	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.0164% Middle Eastern · 1/6,082 alleles

Filtering AF 0.00323% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.00207%

Overall 0.00174% 28/1,613,784 alleles · ultra-rare exomes 27/1,461,560 · genomes 1/152,224 · joint denominator

Ancestry group	Frequency	1 in
Middle Easterngrpmax	0.0164%	6,082
Admixed American	0.00833%	12,002
South Asian	0.00659%	15,180
Remaining individualsnot grpmax-eligible	0.0032%	31,238
East Asian	0.00223%	44,892
Finnishnot grpmax-eligible	0.00157%	63,844
European (non-Finnish)	0.00102%	98,329

Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.

Variant & gene context

Gene: SLC2A10
Protein: p.Pro211=
Coding: c.633G>A
MANE Select: NM_030777
dbSNP: rs770919957
Type: single nucleotide variant
Location: chr20:46725669 (GRCh38)
Gene constraint: LOEUF 1.087 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
Structure: AlphaFold pLDDT 74.78

Full SLC2A10 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

arterial tortuosity syndrome — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Also linked: familial thoracic aortic aneurysm and aortic dissection

Similar variants

SLC2A10 p.Pro211Arg Uncertain significance ★★ ⚠ same residue
SLC2A10 p.Pro211Leu Conflicting classifications of pathogenicity ★ ⚠ same residue
SLC2A10 c.1411+2T>A Pathogenic/Likely pathogenic ★★ same condition
SLC2A10 p.Arg105Cys Pathogenic/Likely pathogenic ★★ same condition
SLC2A10 p.Arg132Trp Pathogenic/Likely pathogenic ★★ same condition
SLC2A10 p.Arg229Ter Pathogenic ★★ same condition
SLC2A10 p.Arg231Gln Pathogenic ★★ same condition
SLC2A10 p.Arg231Trp Pathogenic/Likely pathogenic ★★ same condition

Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →

Cite Sugi Variant

Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/slc2a10-p-pro211 (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown