V216L (p.Val216Leu) variant of GJA1 (Gap junction alpha-1 protein)
V216L (p.Val216Leu) in GJA1 (Gap junction alpha-1 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Oculodentodigital dysplasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes published literature and structural context.
V216L (p.Val216Leu) variant details
- p.Val216Leu
- rs1554201043
- NCI-TCGA Cosmic COSV5699
- ClinGen CA365559480
- ClinVar RCV000502204
- Pathogenic
- Oculodentodigital dysplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.824
- AlphaMissense 0.92
- MetaLR 0.92
- MetaSVM 1.02
- PolyPhen-2 0.97
- SIFT 0.00
- EVE 0.51
- ClinVar: Pathogenic (Oculodentodigital dysplasia)
- EBI: Pathogenic (in ODDD)
- UniProt: Pathogenic (in ODDD)
- Structural context available
- Cited in: Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia. (PMID 12457340)
- Cited in: A nonsense mutation in the first transmembrane domain of connexin 43 underlies autosomal recessive oculodentodigital… (PMID 16816024)