L9V (p.Leu9Val) variant of MUSK (O15146)
L9V (p.Leu9Val) 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 and structural context.
L9V (p.Leu9Val) variant details
- p.Leu9Val
- gnomAD rs1257828480
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- REVEL 0.40
- MetaLR 0.31
- MetaSVM -0.45
- CADD 23.10
- PolyPhen-2 0.66
- SIFT 0.06
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available