Y60C (p.Tyr60Cys) variant of TPM1 (Tropomyosin alpha-1 chain)
Y60C (p.Tyr60Cys) in TPM1 (Tropomyosin alpha-1 chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hypertrophic cardiomyopathy 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes published literature and structural context.
Y60C (p.Tyr60Cys) variant details
- p.Tyr60Cys
- rs1596303148
- ClinGen CA392718618
- NCI-TCGA Cosmic COSV5126
- cosmic curated COSV51263
- Likely pathogenic
- Hypertrophic cardiomyopathy 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.602
- AlphaMissense 0.31
- MetaLR 0.68
- MetaSVM 0.44
- PolyPhen-2 0.06
- SIFT 0.03
- MutPred 0.54
- ClinVar: Likely pathogenic (Hypertrophic cardiomyopathy 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)
- Cited in: Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). (PMID 21267010)