R29S (p.Arg29Ser) variant of MYH7 (Myosin-7)
R29S (p.Arg29Ser) in MYH7 (Myosin-7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
R29S (p.Arg29Ser) variant details
- p.Arg29Ser
- Ensembl rs2138686842
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.42
- CADD 22.40
- PolyPhen-2 0.13
- SIFT 0.04
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available