G94V (p.Gly94Val) variant of PMP22 (Peripheral myelin protein 22)
G94V (p.Gly94Val) in PMP22 (Peripheral myelin protein 22) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
G94V (p.Gly94Val) variant details
- p.Gly94Val
- gnomAD rs1305424913
- Missense
- Variant Prioritization Score for Impact Estimate 0.811
- REVEL 0.83
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available