H34Q (p.His34Gln) variant of PMP22 (Peripheral myelin protein 22)
H34Q (p.His34Gln) in PMP22 (Peripheral myelin protein 22) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Charcot-Marie-Tooth disease, type IA. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
H34Q (p.His34Gln) variant details
- p.His34Gln
- rs779654897
- ExAC rs779654897
- TOPMed rs779654897
- gnomAD rs779654897
- Uncertain significance
- Charcot-Marie-Tooth disease, type IA
- Missense
- Variant Prioritization Score for Impact Estimate 0.205
- REVEL 0.28
- CADD 4.53
- PolyPhen-2 0.02
- SIFT 0.46
- ClinVar: Uncertain significance (Charcot-Marie-Tooth disease, type IA)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available