SRCAP p.Ala111Thr
c.331G>A · VCV3961867
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
AlphaMissense
likely benign
0.1569 · ACMG-weighted
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
1
Inborn genetic diseases
Computational evidence
| Protein change | ||
| AlphaMissense | 0.1569 | likely benign |
|---|---|---|
| REVEL | 0.374 | indeterminate |
| SaProt | — | not scored · why |
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 12 | GERP 2.7, phastCons 1 |
| Regional constraint | o/e 0.48 | unconstrained · MANE · 5,369 bp · p 5.9e-15 · regional, not allelic |
| Overall | ||
| CADD | 25.0 | PHRED · no single calibrated threshold — expert panels disagree |
AlphaMissense carries the ACMG weight for missense; REVEL is an independent agreement signal.
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- SRCAP
- Protein
- p.Ala111Thr
- Coding
- c.331G>A
- MANE Select
- NM_006662
- Type
- single nucleotide variant
- Location
- chr16:30707207 (GRCh38)
- Gene constraint
- LOEUF 0.223 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Residue 111
- an α-helix
Similar variants
- SRCAP p.Gln2407Ter Pathogenic ★★ same condition
- SRCAP p.Ala1152Val Uncertain significance ★★ ⚠ same condition
- SRCAP p.Ala1161Thr Uncertain significance ★★ ⚠ same condition
- SRCAP p.Ala1570Thr Uncertain significance ★★ ⚠ same condition
- SRCAP p.Ala1584Gly Uncertain significance ★★ same condition
- SRCAP p.Ala1985Thr Uncertain significance ★★ same condition
- SRCAP p.Ala2699Val Uncertain significance ★★ ⚠ same condition
- SRCAP p.Ala2945Val Uncertain significance ★★ 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/srcap-p-ala111thr (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown