L29P (p.Leu29Pro) variant of GNAQ (P50148)
L29P (p.Leu29Pro) in GNAQ (P50148) 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 and structural context.
L29P (p.Leu29Pro) variant details
- p.Leu29Pro
- Ensembl rs2118632266
- Missense
- Variant Prioritization Score for Impact Estimate 0.768
- REVEL 0.83
- MetaLR 0.83
- MetaSVM 0.77
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available