K13K (p.Lys13Lys) variant of GJA1 (Gap junction alpha-1 protein)
K13K (p.Lys13Lys) in GJA1 (Gap junction alpha-1 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
K13K (p.Lys13Lys) variant details
- p.Lys13Lys
- gnomAD 6-121446886-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.26
- CADD 7.78
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available