Is SOX10 p.Pro191= (c.573C>T) pathogenic?

SOX10 p.Pro191= (c.573C>T) is classified Likely benign in SOX10 (ClinVar, Multiple submitters, 2 submitters; last evaluated 2024-10-20). Ultra-rare (popmax 0.0691%, eas).

How common is SOX10 p.Pro191= (c.573C>T) in the general population?

SOX10 p.Pro191= (c.573C>T) is ultra-rare (popmax 0.0691%, eas) (gnomAD).

SOX10 p.Pro191=

c.573C>T · rs369439585 · VCV731770

Likely benign Multiple submitters

Classification

Likely benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 2 submitters

gnomAD v4.1

Rare

ultra-rare (popmax 0.0691%, eas)

⚠ Built without this gene's context — gene constraint and dosage, protein structure, pathways, panels and related-variant links were not looked up for this page. why

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
REVEL	0.325	indeterminate
Splicing
SpliceAI	—	not looked up on this page · why
Constraint at this position
Conservation	phyloP -20	GERP -2.9
Overall
CADD	0.005	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.0691% East Asian · 31/44,888 alleles

Filtering AF 0.05% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.0435%

Overall 0.00763% 123/1,611,690 alleles · ultra-rare exomes 113/1,459,452 · genomes 10/152,238 · joint denominator

Ancestry group	Frequency	1 in
East Asiangrpmax	0.0691%	1,448
Admixed American	0.01%	9,993
South Asian	0.00769%	13,005
European (non-Finnish)	0.00627%	15,944
Remaining individualsnot grpmax-eligible	0.00481%	20,811
African / African-American	0.00267%	37,469

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: SOX10
Protein: p.Pro191=
Coding: c.573C>T
MANE Select: NM_006941
dbSNP: rs369439585
Type: single nucleotide variant
Location: chr22:37977991 (GRCh38)

Full SOX10 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

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/sox10-p-pro191 (accessed [today's date]).

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