H52Y (p.His52Tyr) variant of PMP22 (Peripheral myelin protein 22)
H52Y (p.His52Tyr) in PMP22 (Peripheral myelin protein 22) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
H52Y (p.His52Tyr) variant details
- p.His52Tyr
- gnomAD 17-15239526-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.551
- CADD 12.30
- Population evidence available
- Structural context available
- Literature evidence available