S61P (p.Ser61Pro) variant of TPM1 (Tropomyosin alpha-1 chain)
S61P (p.Ser61Pro) 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 0.60 / 1. The record also includes structural context.
S61P (p.Ser61Pro) variant details
- p.Ser61Pro
- rs2031863016
- ClinGen CA392718623
- ClinVar RCV001304326
- Ensembl rs2031863016
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.598
- AlphaMissense 0.97
- MetaLR 0.63
- MetaSVM 0.34
- PolyPhen-2 0.07
- SIFT 0.01
- MutPred 0.60
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available