I29V (p.Ile29Val) variant of PMP22 (Peripheral myelin protein 22)
I29V (p.Ile29Val) in PMP22 (Peripheral myelin protein 22) is a missense change. 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.
I29V (p.Ile29Val) variant details
- p.Ile29Val
- Ensembl rs1909090808
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.28
- CADD 7.92
- PolyPhen-2 0.00
- SIFT 0.43
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available