K102N (p.Lys102Asn) variant of GJA1 (Gap junction alpha-1 protein)
K102N (p.Lys102Asn) 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, autosomal recessive. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes published literature and structural context.
K102N (p.Lys102Asn) variant details
- p.Lys102Asn
- rs1554201011
- ClinGen CA365558626
- ClinVar RCV000646779
- UniProt VAR 015758
- Pathogenic
- Oculodentodigital dysplasia, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.712
- AlphaMissense 0.92
- MetaLR 0.86
- MetaSVM 0.63
- PolyPhen-2 0.12
- SIFT 0.07
- EVE 0.43
- ClinVar: Pathogenic (Oculodentodigital dysplasia, autosomal recessive)
- 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)