V79L (p.Val79Leu) variant of GNAQ (P50148)
V79L (p.Val79Leu) 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.
V79L (p.Val79Leu) variant details
- p.Val79Leu
- TOPMed rs1369065497
- gnomAD rs1369065497
- Missense
- Variant Prioritization Score for Impact Estimate 0.819
- REVEL 0.82
- MetaLR 0.86
- MetaSVM 0.89
- CADD 25.60
- PolyPhen-2 0.89
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available