Q40H (p.Gln40His) variant of PMP22 (Peripheral myelin protein 22)
Q40H (p.Gln40His) in PMP22 (Peripheral myelin protein 22) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
Q40H (p.Gln40His) variant details
- p.Gln40His
- ExAC rs761801976
- gnomAD rs761801976
- Missense
- Variant Prioritization Score for Impact Estimate 0.542
- REVEL 0.61
- CADD 23.20
- PolyPhen-2 0.62
- SIFT 0.41
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available