ASB10 p.Pro19Ser
c.55C>T · rs104886462 · VCV99960
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
rare (popmax 0.172%, mid)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.033 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 0.75 | GERP -1.2, phastCons 0.009 |
| Overall | ||
| CADD | 9.976 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.172%
Middle Eastern · 10/5,798 alleles
Filtering AF
0.102%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0961%
Overall
0.092%
1,392/1,513,512 alleles · rare
exomes 1,286/1,361,212 · genomes 106/152,300 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.172% | 580 |
| Finnishnot grpmax-eligible | 0.159% | 628 |
| Admixed American | 0.128% | 784 |
| European (non-Finnish) | 0.103% | 970 |
| Remaining individualsnot grpmax-eligible | 0.0909% | 1,100 |
| African / African-American | 0.0124% | 8,058 |
| South Asian | 0.00764% | 13,092 |
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
- ASB10
- Protein
- p.Pro19Ser
- Coding
- c.55C>T
- MANE Select
- NM_001142459 · reported on NM_080871
- dbSNP
- rs104886462
- Type
- single nucleotide variant
- Location
- chr7:151187668 (GRCh38)
- Gene constraint
- LOEUF 1.634 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 78.98
- Residue 19
- a UniProt-annotated variant site (in glc1f; uncertain significance)
Similar variants
- ASB10 p.Pro19Arg Benign ★★ same residue
- ASB10 p.Arg138Trp Uncertain significance ★★ ⚠ same type
- ASB10 p.Arg434Cys Uncertain significance ★★ ⚠ same type
- ASB10 p.Leu455Ile Uncertain significance ★★ ⚠ same type
- ASB10 p.Phe416Leu Uncertain significance ★★ ⚠ same type
- ASB10 p.Pro31Thr Uncertain significance ★★ ⚠ same type
- ASB10 p.Pro346Ser Uncertain significance ★★ ⚠ same type
- ASB10 p.Pro422Arg Uncertain significance ★★ same type
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/asb10-p-pro19ser (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown