K68E (p.Lys68Glu) variant of GJA1 (Gap junction alpha-1 protein)
K68E (p.Lys68Glu) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
K68E (p.Lys68Glu) variant details
- p.Lys68Glu
- gnomAD rs1773900738
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.649
- REVEL 0.67
- MetaLR 0.88
- MetaSVM 0.95
- CADD 22.90
- PolyPhen-2 0.41
- SIFT 0.35
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available