H51Y (p.His51Tyr) variant of PMP22 (Peripheral myelin protein 22)
H51Y (p.His51Tyr) in PMP22 (Peripheral myelin protein 22) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
H51Y (p.His51Tyr) variant details
- p.His51Tyr
- gnomAD rs923608028
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.22
- CADD 15.40
- PolyPhen-2 0.00
- SIFT 0.88
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available