A35G (p.Ala35Gly) variant of PMP22 (Peripheral myelin protein 22)
A35G (p.Ala35Gly) in PMP22 (Peripheral myelin protein 22) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
A35G (p.Ala35Gly) variant details
- p.Ala35Gly
- ExAC rs765235223
- gnomAD rs765235223
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.14
- CADD 15.30
- PolyPhen-2 0.10
- SIFT 0.31
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available