T21A (p.Thr21Ala) variant of MUSK (O15146)
T21A (p.Thr21Ala) in MUSK (O15146) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
T21A (p.Thr21Ala) variant details
- p.Thr21Ala
- ExAC rs747473837
- gnomAD rs747473837
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.13
- MetaLR 0.12
- MetaSVM -0.99
- CADD 18.90
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available