H52N (p.His52Asn) variant of PMP22 (Peripheral myelin protein 22)
H52N (p.His52Asn) in PMP22 (Peripheral myelin protein 22) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
H52N (p.His52Asn) variant details
- p.His52Asn
- gnomAD rs1243991145
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.28
- CADD 20.60
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available