V28I (p.Val28Ile) variant of GJA1 (Gap junction alpha-1 protein)
V28I (p.Val28Ile) in GJA1 (Gap junction alpha-1 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
V28I (p.Val28Ile) variant details
- p.Val28Ile
- gnomAD 6-121446929-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.623
- REVEL 0.59
- MetaLR 0.98
- MetaSVM 1.10
- CADD 24.40
- PolyPhen-2 1.00
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available