L3R (p.Leu3Arg) variant of GNAQ (P50148)
L3R (p.Leu3Arg) in GNAQ (P50148) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
L3R (p.Leu3Arg) variant details
- p.Leu3Arg
- gnomAD rs1824054666
- Missense
- Variant Prioritization Score for Impact Estimate 0.521
- REVEL 0.48
- MetaLR 0.54
- MetaSVM 0.06
- CADD 24.90
- PolyPhen-2 0.87
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available