MRTFA p.Ala360Val
c.1079_1080delinsTT · rs2517825597 · VCV2855593
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Not reported
no gnomAD frequency available for this variant
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 7.5 | GERP -0.61, phastCons 1 |
| Regional constraint | o/e 1.06 | unconstrained · MANE · 13 kb · p 0.043 · regional, not allelic |
Population frequency
dbSNP / gnomAD
No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- MRTFA
- Protein
- p.Ala360Val
- Coding
- c.1079_1080delinsTT
- MANE Select
- NM_020831
- dbSNP
- rs2517825597
- Type
- Indel
- Location
- chr22:40420948 (GRCh38)
- Gene constraint
- LOEUF 0.389 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 56.59 · 2 PDB
- Residue 360
- the sap domain; an α-helix
Similar variants
- MRTFA p.Ala360Thr Uncertain significance ★★ ⚠ same residue
- MRTFA p.Gln595Lys Uncertain significance ★ same type
- MRTFA p.Gly912Val Uncertain significance ★ same type
- MRTFA p.Pro583_Leu584= 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/mrtfa-p-ala360val (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown