L43P (p.Leu43Pro) variant of GNAQ (P50148)
L43P (p.Leu43Pro) in GNAQ (P50148) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
L43P (p.Leu43Pro) variant details
- p.Leu43Pro
- gnomAD rs1466271329
- Missense
- Variant Prioritization Score for Impact Estimate 0.816
- REVEL 0.90
- MetaLR 0.94
- MetaSVM 1.02
- CADD 29.50
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available