L3V (p.Leu3Val) variant of GNAQ (P50148)
L3V (p.Leu3Val) in GNAQ (P50148) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
L3V (p.Leu3Val) variant details
- p.Leu3Val
- gnomAD rs1824054704
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- REVEL 0.34
- MetaLR 0.42
- MetaSVM -0.40
- CADD 22.70
- PolyPhen-2 0.57
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available