ASMT p.Val236Ile
c.706G>A · VCV3256181
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00933%, afr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.093 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 0.52 | GERP 1.7, phastCons 0.087 |
| Regional constraint | o/e 1.20 | unconstrained · MANE · 28 kb · p 2e-05 · regional, not allelic |
| Overall | ||
| CADD | 0.405 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00933%
African / African-American · 7/75,002 alleles
Filtering AF
0.00437%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00308%
Overall
0.00297%
48/1,613,826 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.00933% | 10,715 |
| South Asian | 0.00549% | 18,212 |
| European (non-Finnish) | 0.00288% | 34,701 |
| East Asian | 0.00223% | 44,876 |
| Remaining individualsnot grpmax-eligible | 0.0016% | 62,488 |
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
- ASMT
- Protein
- p.Val236Ile
- Coding
- c.706G>A
- MANE Select
- NM_001171038
- Type
- single nucleotide variant
- Location
- chrX:1633209 (GRCh38)
- Structure
- AlphaFold pLDDT 95.55 · 2 PDB
- Residue 236
- a binding site
Similar variants
- ASMT p.Lys81Glu Likely benign ★★ same type
- ASMT c.562+2T>C Conflicting classifications of pathogenicity ★ same type
- ASMT p.Asn17Lys Uncertain significance ★ same type
- ASMT p.Cys29Ter Uncertain significance ★ same type
- ASMT p.Phe266Val Uncertain significance ★ same type
- ASMT p.Tyr229Ter Uncertain significance ★ same type
- ASMT p.Arg210= Likely benign same type
- ASMT p.Asp122= Likely benign 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/asmt-p-val236ile (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown