E23A (p.Glu23Ala) variant of TPM1 (Tropomyosin alpha-1 chain)
E23A (p.Glu23Ala) 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 Familial cardiomyopathy; Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes structural context.
E23A (p.Glu23Ala) variant details
- p.Glu23Ala
- rs2140595470
- ClinGen CA392718058
- ClinVar RCV002008704
- ClinVar RCV002471211
- Uncertain significance
- Familial cardiomyopathy; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.777
- AlphaMissense 0.52
- MetaLR 0.95
- MetaSVM 1.09
- PolyPhen-2 0.78
- SIFT 0.00
- MutPred 0.15
- ClinVar: Uncertain significance (Familial cardiomyopathy; Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available