Y65C (p.Tyr65Cys) variant of MYH7 (Myosin-7)
Y65C (p.Tyr65Cys) in MYH7 (Myosin-7) 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 0.24 / 1. The record also includes population frequency data and structural context.
Y65C (p.Tyr65Cys) variant details
- p.Tyr65Cys
- rs2502322071
- ClinGen CA389053601
- ClinVar RCV003018224
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.36
- MetaSVM -0.52
- CADD 17.02
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available