A35V (p.Ala35Val) variant of PMP22 (Peripheral myelin protein 22)
A35V (p.Ala35Val) in PMP22 (Peripheral myelin protein 22) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
A35V (p.Ala35Val) variant details
- p.Ala35Val
- ExAC rs765235223
- gnomAD rs765235223
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- REVEL 0.17
- CADD 16.30
- PolyPhen-2 0.06
- SIFT 0.47
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available