Y60H (p.Tyr60His) variant of TPM1 (Tropomyosin alpha-1 chain)
Y60H (p.Tyr60His) 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 0.62 / 1. The record also includes structural context.
Y60H (p.Tyr60His) variant details
- p.Tyr60His
- rs2031862156
- ClinGen CA392718616
- ClinVar RCV001304952
- Ensembl rs2031862156
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.615
- AlphaMissense 0.48
- MetaLR 0.66
- MetaSVM 0.30
- PolyPhen-2 0.06
- SIFT 0.10
- MutPred 0.52
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available