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 0.37 / 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 0.369
- REVEL 0.42
- ESM-1b 0.00
- AlphaMissense 0.62
- MetaLR 0.42
- MetaSVM -0.42
- CADD 23.80
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available