Y103H (p.Tyr103His) variant of MYH7 (Myosin-7)
Y103H (p.Tyr103His) in MYH7 (Myosin-7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
Y103H (p.Tyr103His) variant details
- p.Tyr103His
- Ensembl rs2138685522
- Missense
- Variant Prioritization Score for Impact Estimate 0.578
- REVEL 0.54
- CADD 24.60
- PolyPhen-2 0.84
- SIFT 0.50
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available