K16N (p.Lys16Asn) variant of GJA5 (Gap junction alpha-5 protein)
K16N (p.Lys16Asn) in GJA5 (Gap junction alpha-5 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and published literature.
K16N (p.Lys16Asn) variant details
- p.Lys16Asn
- gnomAD 1-147759191-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.614
- MetaLR 0.94
- MetaSVM 1.03
- CADD 23.50
- PolyPhen-2 0.86
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Literature evidence available