L40H (p.Leu40His) variant of GNAQ (P50148)
L40H (p.Leu40His) in GNAQ (P50148) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
L40H (p.Leu40His) variant details
- p.Leu40His
- Ensembl rs2118632149
- Missense
- Variant Prioritization Score for Impact Estimate 0.606
- REVEL 0.61
- MetaLR 0.69
- MetaSVM 0.25
- CADD 25.50
- PolyPhen-2 0.95
- SIFT 0.00
- Population evidence available
- Structural context available