Y128H (p.Tyr128His) variant of MYH6 (Myosin-6)
Y128H (p.Tyr128His) in MYH6 (Myosin-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
Y128H (p.Tyr128His) variant details
- p.Tyr128His
- TOPMed rs1891751513
- Missense
- Variant Prioritization Score for Impact Estimate 0.784
- REVEL 0.89
- CADD 27.70
- PolyPhen-2 0.80
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available