Y128C (p.Tyr128Cys) variant of MYH6 (Myosin-6)
Y128C (p.Tyr128Cys) in MYH6 (Myosin-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
Y128C (p.Tyr128Cys) variant details
- p.Tyr128Cys
- ExAC rs745340861
- gnomAD rs745340861
- Missense
- Variant Prioritization Score for Impact Estimate 0.833
- REVEL 0.97
- CADD 27.60
- PolyPhen-2 0.92
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available