R29K (p.Arg29Lys) variant of MYH7 (Myosin-7)
R29K (p.Arg29Lys) in MYH7 (Myosin-7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
R29K (p.Arg29Lys) variant details
- p.Arg29Lys
- Ensembl rs1893038687
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.26
- MetaSVM -0.71
- CADD 23.30
- Most common in the East Asian population (allele frequency 0.0001)
- Structural context available