G31D (p.Gly31Asp) variant of PMP22 (Peripheral myelin protein 22)
G31D (p.Gly31Asp) in PMP22 (Peripheral myelin protein 22) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
G31D (p.Gly31Asp) variant details
- p.Gly31Asp
- gnomAD rs1451714453
- Missense
- Variant Prioritization Score for Impact Estimate 0.567
- REVEL 0.59
- CADD 22.40
- PolyPhen-2 0.57
- SIFT 0.15
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available