K206R (p.Lys206Arg) variant of GJA1 (Gap junction alpha-1 protein)
K206R (p.Lys206Arg) 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 0.97 / 1. The record also includes published literature and structural context.
K206R (p.Lys206Arg) variant details
- p.Lys206Arg
- rs397518464
- ClinGen CA145310
- ClinVar RCV000074385
- UniProt VAR 070440
- Pathogenic
- Oculodentodigital dysplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.97
- AlphaMissense 0.96
- MetaLR 0.99
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.99
- ClinVar: Pathogenic (Oculodentodigital dysplasia)
- EBI: Pathogenic (in ODDD)
- UniProt: Pathogenic (in ODDD)
- Structural context available
- Cited in: A novel mutation in GJA1 causing oculodentodigital syndrome and primary lymphoedema in a three generation family. (PMID 23550541)
- Cited in: A nonsense mutation in the first transmembrane domain of connexin 43 underlies autosomal recessive oculodentodigital… (PMID 16816024)