L40I (p.Leu40Ile) variant of GNA11 (P29992)
L40I (p.Leu40Ile) in GNA11 (P29992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
L40I (p.Leu40Ile) variant details
- p.Leu40Ile
- gnomAD 19-3094769-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- REVEL 0.48
- CADD 23.80
- PolyPhen-2 0.86
- SIFT 0.51
- Population evidence available
- Structural context available
- Literature evidence available