I72V (p.Ile72Val) variant of GJA1 (Gap junction alpha-1 protein)
I72V (p.Ile72Val) in GJA1 (Gap junction alpha-1 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
I72V (p.Ile72Val) variant details
- p.Ile72Val
- gnomAD 6-121447061-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.724
- REVEL 0.79
- MetaLR 0.94
- MetaSVM 1.09
- CADD 25.00
- PolyPhen-2 0.67
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available