I24V (p.Ile24Val) variant of PMP22 (Peripheral myelin protein 22)
I24V (p.Ile24Val) in PMP22 (Peripheral myelin protein 22) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
I24V (p.Ile24Val) variant details
- p.Ile24Val
- gnomAD rs1336298802
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.41
- CADD 23.10
- PolyPhen-2 0.05
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available