I72T (p.Ile72Thr) variant of GJA5 (Gap junction alpha-5 protein)
I72T (p.Ile72Thr) in GJA5 (Gap junction alpha-5 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and published literature.
I72T (p.Ile72Thr) variant details
- p.Ile72Thr
- gnomAD 1-147759024-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.741
- MetaLR 0.99
- MetaSVM 0.99
- CADD 27.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Literature evidence available