L43P (p.Leu43Pro) variant of GNA11 (P29992)
L43P (p.Leu43Pro) in GNA11 (P29992) 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, published literature, and structural context.
L43P (p.Leu43Pro) variant details
- p.Leu43Pro
- gnomAD 19-3094779-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.745
- REVEL 0.90
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available