K16R (p.Lys16Arg) variant of GJA5 (Gap junction alpha-5 protein)
K16R (p.Lys16Arg) in GJA5 (Gap junction alpha-5 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data.
K16R (p.Lys16Arg) variant details
- p.Lys16Arg
- gnomAD rs1553227111
- Missense
- Variant Prioritization Score for Impact Estimate 0.711
- MetaLR 0.94
- MetaSVM 1.11
- CADD 24.80
- PolyPhen-2 0.81
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)