R30L (p.Arg30Leu) variant of GNA11 (P29992)
R30L (p.Arg30Leu) in GNA11 (P29992) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
R30L (p.Arg30Leu) variant details
- p.Arg30Leu
- NCI-TCGA TCGA novel
- TOPMed rs1913318778
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.63
- REVEL 0.66
- CADD 25.10
- PolyPhen-2 0.72
- SIFT 0.18
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Ashkenazi Jewish population (allele frequency 4e-05)
- Structural context available