I72L (p.Ile72Leu) variant of GJA5 (Gap junction alpha-5 protein)
I72L (p.Ile72Leu) in GJA5 (Gap junction alpha-5 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and published literature.
I72L (p.Ile72Leu) variant details
- p.Ile72Leu
- gnomAD 1-147759025-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.662
- MetaLR 0.97
- MetaSVM 1.09
- CADD 25.90
- PolyPhen-2 0.95
- SIFT 0.03
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Literature evidence available