V15M (p.Val15Met) variant of PMP22 (Peripheral myelin protein 22)
V15M (p.Val15Met) in PMP22 (Peripheral myelin protein 22) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
V15M (p.Val15Met) variant details
- p.Val15Met
- cosmic curated COSV10516
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- REVEL 0.44
- CADD 25.00
- PolyPhen-2 0.76
- SIFT 0.08
- Population evidence available
- Structural context available