ASTL p.Ser155=
c.465G>A · rs78275861 · VCV708461
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 2.17%, 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 -3.4 | GERP -3.4 |
| Overall | ||
| CADD | 1.185 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
2.17%
African / African-American · 1,630/74,962 alleles
Filtering AF
2.09%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 2.05%
Overall
0.115%
1,848/1,609,430 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 2.17% | 46 |
| Admixed American | 0.16% | 623 |
| Remaining individualsnot grpmax-eligible | 0.132% | 760 |
| Middle Eastern | 0.0497% | 2,013 |
| South Asian | 0.0088% | 11,369 |
| European (non-Finnish) | 0.00246% | 40,573 |
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
- ASTL
- Protein
- p.Ser155=
- Coding
- c.465G>A
- MANE Select
- NM_001002036
- dbSNP
- rs78275861
- Type
- single nucleotide variant
- Location
- chr2:96132712 (GRCh38)
- Gene constraint
- LOEUF 1.024 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 71.90 · 1 PDB
- Residue 155
- the peptidase m12a domain
Similar variants
- ASTL p.Ala125Glu Uncertain significance ★ ⚠ same type
- ASTL p.Ala125Val Uncertain significance ★ ⚠ same type
- ASTL p.Ala24Pro Uncertain significance ★ ⚠ same type
- ASTL p.Ala24Val Uncertain significance ★ ⚠ same type
- ASTL p.Ala318Val Uncertain significance ★ ⚠ same type
- ASTL p.Ala31Thr Uncertain significance ★ ⚠ same type
- ASTL p.Ala330Val Uncertain significance ★ ⚠ same type
- ASTL p.Ala367Pro 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/astl-p-ser155 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown