R74P (p.Arg74Pro) variant of MUSK (O15146)
R74P (p.Arg74Pro) in MUSK (O15146) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
R74P (p.Arg74Pro) variant details
- p.Arg74Pro
- gnomAD 9-110687131-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.612
- REVEL 0.54
- MetaLR 0.33
- MetaSVM -0.44
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available
- Literature evidence available