N63K (p.Asn63Lys) variant of GJA1 (Gap junction alpha-1 protein)
N63K (p.Asn63Lys) in GJA1 (Gap junction alpha-1 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Oculodentodigital dysplasia, autosomal recessive. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes structural context.
N63K (p.Asn63Lys) variant details
- p.Asn63Lys
- rs139688042
- ClinGen CA365558173
- ClinVar RCV001974023
- ESP rs139688042
- Uncertain significance
- Oculodentodigital dysplasia, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.972
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.11
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.95
- ClinVar: Uncertain significance (Oculodentodigital dysplasia, autosomal recessive)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available