V37L (p.Val37Leu) variant of GJB1 (Gap junction beta-1 protein)
V37L (p.Val37Leu) in GJB1 (Gap junction beta-1 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Charcot-Marie-Tooth disease; Charcot-Marie-Tooth disease X-linked dominant 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
V37L (p.Val37Leu) variant details
- p.Val37Leu
- rs1057518946
- ClinGen CA413500957
- ClinVar RCV001173558
- ClinVar RCV006257328
- Likely pathogenic
- Charcot-Marie-Tooth disease; Charcot-Marie-Tooth disease X-linked dominant 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.756
- REVEL 0.82
- CADD 23.90
- PolyPhen-2 0.99
- SIFT 0.22
- ClinVar: Likely pathogenic (Charcot-Marie-Tooth disease; Charcot-Marie-Tooth disease X-linke)
- EBI: Pathogenic (in CMTX1)
- UniProt: Pathogenic (in CMTX1)
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)
- Cited in: GJB1 Disorders: Charcot-Marie-Tooth Neuropathy (CMT1X) and Central Nervous System Phenotypes. (PMID 20301548)