AMOT p.Asp443=
c.1329C>T · rs149397566 · VCV2661226
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.115%, mid)
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 -0.068 | GERP -3.4, phastCons 0.017 |
| Overall | ||
| CADD | 3.531 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.115%
Middle Eastern · 5/4,351 alleles
Filtering AF
0.0759%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0686%
Overall
0.0161%
195/1,210,004 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.115% | 870 |
| African / African-American | 0.0962% | 1,039 |
| South Asian | 0.0634% | 1,577 |
| Remaining individualsnot grpmax-eligible | 0.0189% | 5,292 |
| European (non-Finnish) | 0.0101% | 9,948 |
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
- AMOT
- Protein
- p.Asp443=
- Coding
- c.1329C>T
- MANE Select
- NM_001113490
- dbSNP
- rs149397566
- Type
- single nucleotide variant
- Location
- chrX:112815421 (GRCh38)
- Structure
- AlphaFold pLDDT 58.16 · 18 PDB
- Residue 443
- the 'involved in interaction with yap1' region
Similar variants
- AMOT p.Asp443Asn Uncertain significance ★ ⚠ same residue
- AMOT p.Ala1032Val Benign ★★ same type
- AMOT p.Ser316= Benign ★★ same type
- AMOT p.Ser538= Benign ★★ same type
- AMOT p.Ser780= Benign ★★ same type
- AMOT p.Thr899Ala Benign ★★ same type
- AMOT p.Gln642His Likely pathogenic ★ ⚠ same type
- AMOT p.Ala1023Pro 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/amot-p-asp443 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown