T31A (p.Thr31Ala) variant of MUSK (O15146)
T31A (p.Thr31Ala) 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.
T31A (p.Thr31Ala) variant details
- p.Thr31Ala
- gnomAD rs2076148381
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.13
- MetaLR 0.11
- MetaSVM -1.03
- CADD 23.90
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available