V13M (p.Val13Met) variant of GJB1 (Gap junction beta-1 protein)
V13M (p.Val13Met) 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 Inborn genetic diseases; not provided; Charcot-Marie-Tooth disease X-linked domi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
V13M (p.Val13Met) variant details
- p.Val13Met
- rs104894820
- ClinGen CA10445274
- ClinVar RCV000789172
- ClinVar RCV000808363
- Conflicting interpretations
- Inborn genetic diseases; not provided; Charcot-Marie-Tooth disease X-linked domi
- Missense
- Variant Prioritization Score for Impact Estimate 0.835
- REVEL 0.94
- CADD 26.20
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided; Charcot-Marie-Tooth disea)
- EBI: Pathogenic (in CMTX1)
- UniProt: Pathogenic (in CMTX1)
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Cited in: Connexin32 and X-linked Charcot-Marie-Tooth disease. (PMID 9361298)
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)