I7V (p.Ile7Val) variant of MUSK (O15146)
I7V (p.Ile7Val) in MUSK (O15146) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
I7V (p.Ile7Val) variant details
- p.Ile7Val
- gnomAD 9-110668923-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.10
- MetaLR 0.15
- MetaSVM -0.94
- CADD 21.10
- PolyPhen-2 0.01
- SIFT 0.15
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Literature evidence available