V30M (p.Val30Met) variant of PMP22 (Peripheral myelin protein 22)
V30M (p.Val30Met) in PMP22 (Peripheral myelin protein 22) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Charcot-Marie-Tooth disease, type I; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
V30M (p.Val30Met) variant details
- p.Val30Met
- rs377335295
- ClinGen CA8403434
- ClinVar RCV000790166
- ClinVar RCV000796876
- Conflicting interpretations
- Charcot-Marie-Tooth disease, type I; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- REVEL 0.65
- CADD 19.40
- PolyPhen-2 0.06
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Charcot-Marie-Tooth disease, type I; not provided)
- EBI: Pathogenic (in HNPP)
- UniProt: Pathogenic (in HNPP)
- Most common in the HGDP:PALESTINIAN population (allele frequency 0.013)
- Structural context available
- Cited in: A novel PMP22 point mutation causing HNPP phenotype: studies on nerve xenografts. (PMID 9748013)
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)