P33R (p.Pro33Arg) variant of MUSK (O15146)
P33R (p.Pro33Arg) in MUSK (O15146) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
P33R (p.Pro33Arg) variant details
- p.Pro33Arg
- gnomAD 9-110682692-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- REVEL 0.30
- MetaLR 0.34
- MetaSVM -0.29
- CADD 26.20
- PolyPhen-2 0.98
- SIFT 0.11
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available