H34Y (p.His34Tyr) variant of PMP22 (Peripheral myelin protein 22)
H34Y (p.His34Tyr) in PMP22 (Peripheral myelin protein 22) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Charcot-Marie-Tooth disease, type I; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
H34Y (p.His34Tyr) variant details
- p.His34Tyr
- rs756458019
- ClinGen CA8403429
- ClinVar RCV000638156
- ClinVar RCV002438689
- Likely benign
- Charcot-Marie-Tooth disease, type I; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.20
- CADD 14.70
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Likely benign (Charcot-Marie-Tooth disease, type I; Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)