L44P (p.Leu44Pro) variant of GNAQ (P50148)
L44P (p.Leu44Pro) in GNAQ (P50148) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
L44P (p.Leu44Pro) variant details
- p.Leu44Pro
- Ensembl rs2118632108
- Missense
- Variant Prioritization Score for Impact Estimate 0.636
- REVEL 0.64
- MetaLR 0.77
- MetaSVM 0.42
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.01
- Population evidence available
- Structural context available