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 0.53 / 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 0.532
- REVEL 0.54
- ESM-1b 0.30
- AlphaMissense 0.23
- MetaLR 0.54
- MetaSVM -0.30
- CADD 28.60
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available