A35P (p.Ala35Pro) variant of PMP22 (Peripheral myelin protein 22)
A35P (p.Ala35Pro) in PMP22 (Peripheral myelin protein 22) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
A35P (p.Ala35Pro) variant details
- p.Ala35Pro
- ExAC rs750000952
- TOPMed rs750000952
- gnomAD rs750000952
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.52
- CADD 8.00
- PolyPhen-2 0.53
- SIFT 0.18
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available