A25V (p.Ala25Val) variant of TPM1 (Tropomyosin alpha-1 chain)
A25V (p.Ala25Val) 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 Cardiomyopathy; Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes published literature and structural context.
A25V (p.Ala25Val) variant details
- p.Ala25Val
- rs2031433815
- ClinGen CA392718073
- ClinVar RCV002025854
- ClinVar RCV006550841
- Uncertain significance
- Cardiomyopathy; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.799
- AlphaMissense 0.54
- MetaLR 0.95
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.23
- ClinVar: Uncertain significance (Cardiomyopathy; Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)