P55A (p.Pro55Ala) variant of MUSK (O15146)
P55A (p.Pro55Ala) in MUSK (O15146) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
P55A (p.Pro55Ala) variant details
- p.Pro55Ala
- gnomAD 9-110682757-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.773
- REVEL 0.80
- MetaLR 0.67
- MetaSVM 0.51
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- Literature evidence available