L40P (p.Leu40Pro) variant of GNAQ (P50148)
L40P (p.Leu40Pro) 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.
L40P (p.Leu40Pro) variant details
- p.Leu40Pro
- Ensembl rs2118632149
- Missense
- Variant Prioritization Score for Impact Estimate 0.642
- REVEL 0.65
- MetaLR 0.76
- MetaSVM 0.41
- CADD 26.00
- PolyPhen-2 0.99
- SIFT 0.01
- Population evidence available
- Structural context available