I30V (p.Ile30Val) variant of MUSK (O15146)
I30V (p.Ile30Val) in MUSK (O15146) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
I30V (p.Ile30Val) variant details
- p.Ile30Val
- gnomAD 9-110682682-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.35
- MetaLR 0.34
- MetaSVM -0.32
- CADD 25.70
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available