L42P (p.Leu42Pro) variant of GNA11 (P29992)
L42P (p.Leu42Pro) in GNA11 (P29992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
L42P (p.Leu42Pro) variant details
- p.Leu42Pro
- gnomAD 19-3094776-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.768
- REVEL 0.89
- CADD 29.20
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available