L36V (p.Leu36Val) variant of GJA1 (Gap junction alpha-1 protein)
L36V (p.Leu36Val) in GJA1 (Gap junction alpha-1 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
L36V (p.Leu36Val) variant details
- p.Leu36Val
- gnomAD 6-121446953-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.39
- MetaLR 0.49
- MetaSVM -0.25
- CADD 13.80
- PolyPhen-2 0.01
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available