F71V (p.Phe71Val) variant of MUSK (O15146)
F71V (p.Phe71Val) in MUSK (O15146) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
F71V (p.Phe71Val) variant details
- p.Phe71Val
- Ensembl rs2076206609
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.38
- MetaLR 0.32
- MetaSVM -0.53
- CADD 26.90
- PolyPhen-2 0.58
- SIFT 0.00
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available