T87K (p.Thr87Lys) variant of GJA5 (Gap junction alpha-5 protein)
T87K (p.Thr87Lys) in GJA5 (Gap junction alpha-5 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and published literature.
T87K (p.Thr87Lys) variant details
- p.Thr87Lys
- gnomAD 1-147758979-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.834
- MetaLR 0.98
- MetaSVM 1.05
- CADD 28.60
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Literature evidence available