G5V (p.Gly5Val) variant of GJB1 (Gap junction beta-1 protein)
G5V (p.Gly5Val) in GJB1 (Gap junction beta-1 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Charcot-Marie-Tooth Neuropathy X. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
G5V (p.Gly5Val) variant details
- p.Gly5Val
- rs1064793139
- ClinGen CA16621491
- ClinVar RCV000480735
- ClinVar RCV000697574
- Conflicting interpretations
- not provided; Charcot-Marie-Tooth Neuropathy X
- Missense
- Variant Prioritization Score for Impact Estimate 0.542
- REVEL 0.49
- CADD 19.60
- PolyPhen-2 0.14
- SIFT 0.44
- ClinVar: Conflicting classifications of pathogenicity (not provided; Charcot-Marie-Tooth Neuropathy X)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)