W61L (p.Trp61Leu) variant of PMP22 (Peripheral myelin protein 22)
W61L (p.Trp61Leu) in PMP22 (Peripheral myelin protein 22) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
W61L (p.Trp61Leu) variant details
- p.Trp61Leu
- cosmic curated COSV10039
- Missense
- Variant Prioritization Score for Impact Estimate 0.773
- REVEL 0.76
- CADD 27.70
- PolyPhen-2 0.96
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available