L40I (p.Leu40Ile) variant of GNAQ (P50148)
L40I (p.Leu40Ile) in GNAQ (P50148) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
L40I (p.Leu40Ile) variant details
- p.Leu40Ile
- Ensembl rs2118632151
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.26
- MetaLR 0.40
- MetaSVM -0.68
- CADD 19.40
- PolyPhen-2 0.18
- SIFT 0.04
- Population evidence available
- Structural context available