ASB10 p.Ala172=
c.516C>T · rs104886471 · VCV99957
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
rare (popmax 0.292%, afr)
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 -10 | GERP -3.4 |
| Overall | ||
| CADD | 0.175 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.292%
African / African-American · 218/74,628 alleles
Filtering AF
0.26%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.248%
Overall
0.0166%
264/1,594,058 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.292% | 342 |
| East Asian | 0.0274% | 3,648 |
| Remaining individualsnot grpmax-eligible | 0.0259% | 3,861 |
| Admixed American | 0.0105% | 9,486 |
| Ashkenazi Jewishnot grpmax-eligible | 0.00686% | 14,586 |
| European (non-Finnish) | 0.000854% | 117,071 |
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.Ala172=
- Coding
- c.516C>T
- MANE Select
- NM_001142459
- dbSNP
- rs104886471
- Type
- single nucleotide variant
- Location
- chr7:151186460 (GRCh38)
- Gene constraint
- LOEUF 1.634 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 78.98
- Residue 172
- a UniProt-annotated variant site (in)
Similar variants
- ASB10 p.Ala172Gly Uncertain significance ★ ⚠ same residue
- ASB10 p.Ala172Thr Uncertain significance ★ ⚠ 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
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-ala172 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown