L40P (p.Leu40Pro) variant of GNA11 (P29992)
L40P (p.Leu40Pro) 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.
L40P (p.Leu40Pro) variant details
- p.Leu40Pro
- gnomAD 19-3094770-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.738
- REVEL 0.89
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available