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 0.37 / 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 0.366
- REVEL 0.20
- CADD 17.00
- PolyPhen-2 0.00
- SIFT 0.78
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available