D72H (p.Asp72His) variant of MUSK (O15146)
D72H (p.Asp72His) in MUSK (O15146) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
D72H (p.Asp72His) variant details
- p.Asp72His
- gnomAD 9-110687124-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.562
- REVEL 0.47
- MetaLR 0.25
- MetaSVM -0.72
- CADD 29.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- Literature evidence available