V41A (p.Val41Ala) variant of MUSK (O15146)
V41A (p.Val41Ala) in MUSK (O15146) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
V41A (p.Val41Ala) variant details
- p.Val41Ala
- ExAC rs760628267
- gnomAD rs760628267
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.13
- MetaLR 0.11
- MetaSVM -1.00
- CADD 26.50
- PolyPhen-2 0.69
- SIFT 0.14
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available