K34R (p.Lys34Arg) variant of MYH7 (Myosin-7)
K34R (p.Lys34Arg) in MYH7 (Myosin-7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes structural context.
K34R (p.Lys34Arg) variant details
- p.Lys34Arg
- Ensembl rs2138686780
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- REVEL 0.41
- ESM-1b 1.00
- AlphaMissense 0.08
- MetaLR 0.66
- MetaSVM 0.20
- CADD 24.40
- Structural context available