K13E (p.Lys13Glu) variant of GJA1 (Gap junction alpha-1 protein)
K13E (p.Lys13Glu) 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 0.60 / 1. The record also includes population frequency data and structural context.
K13E (p.Lys13Glu) variant details
- p.Lys13Glu
- rs2536821115
- ClinGen CA365557782
- ClinVar RCV003120407
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.601
- REVEL 0.57
- MetaLR 0.93
- MetaSVM 1.00
- CADD 27.10
- PolyPhen-2 0.96
- SIFT 0.07
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available