ASB16 p.Ala31=
c.93G>A · VCV4152257
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.005%, amr)
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 -6.8 | GERP -4.7 |
| Overall | ||
| CADD | 0.115 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.005%
Admixed American · 3/59,970 alleles
Filtering AF
0.00133%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.000668%
Overall
0.000931%
15/1,611,520 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.005% | 19,990 |
| South Asian | 0.0033% | 30,324 |
| African / African-American | 0.00133% | 75,022 |
| European (non-Finnish) | 0.000678% | 147,442 |
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
- ASB16
- Protein
- p.Ala31=
- Coding
- c.93G>A
- MANE Select
- NM_080863
- Type
- single nucleotide variant
- Location
- chr17:44170882 (GRCh38)
- Gene constraint
- LOEUF 1.675 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 88.68
Similar variants
- ASB16 p.Ala31Val Uncertain significance ★ ⚠ same residue
- ASB16 p.Ala200Pro Uncertain significance ★ ⚠ same type
- ASB16 p.Ala200Thr Uncertain significance ★ ⚠ same type
- ASB16 p.Ala219Val Uncertain significance ★ ⚠ same type
- ASB16 p.Ala252Pro Uncertain significance ★ ⚠ same type
- ASB16 p.Ala254Thr Uncertain significance ★ ⚠ same type
- ASB16 p.Ala273Gly Uncertain significance ★ ⚠ same type
- ASB16 p.Ala291Thr 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/asb16-p-ala31 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown