P57A (p.Pro57Ala) variant of MUSK (O15146)
P57A (p.Pro57Ala) in MUSK (O15146) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
P57A (p.Pro57Ala) variant details
- p.Pro57Ala
- Ensembl rs2076149293
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.10
- MetaLR 0.25
- MetaSVM -0.76
- CADD 16.90
- PolyPhen-2 0.02
- SIFT 0.89
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available