A22V (p.Ala22Val) variant of TPM1 (Tropomyosin alpha-1 chain)
A22V (p.Ala22Val) in TPM1 (Tropomyosin alpha-1 chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes structural context.
A22V (p.Ala22Val) variant details
- p.Ala22Val
- rs2031431973
- ClinGen CA392718054
- cosmic curated COSV51261
- ClinVar RCV001908493
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.812
- AlphaMissense 0.41
- MetaLR 0.98
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.29
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available