V41L (p.Val41Leu) variant of GJA1 (Gap junction alpha-1 protein)
V41L (p.Val41Leu) in GJA1 (Gap junction alpha-1 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Oculodentodigital dysplasia, autosomal recessive. The record also includes published literature and structural context.
V41L (p.Val41Leu) variant details
- p.Val41Leu
- rs2536821212
- ClinGen CA365557955
- ClinVar RCV003518753
- UniProt VAR 058993
- Likely pathogenic
- Oculodentodigital dysplasia, autosomal recessive
- Missense
- ClinVar: Likely pathogenic (Oculodentodigital dysplasia, autosomal recessive)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Bigenic connexin mutations in a patient with hidrotic ectodermal dysplasia. (PMID 15757815)