G94D (p.Gly94Asp) variant of PMP22 (Peripheral myelin protein 22)
G94D (p.Gly94Asp) in PMP22 (Peripheral myelin protein 22) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
G94D (p.Gly94Asp) variant details
- p.Gly94Asp
- gnomAD rs1305424913
- Missense
- Variant Prioritization Score for Impact Estimate 0.698
- REVEL 0.65
- CADD 23.80
- PolyPhen-2 0.86
- SIFT 0.15
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available