R37Q (p.Arg37Gln) variant of GNA11 (P29992)
R37Q (p.Arg37Gln) in GNA11 (P29992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
R37Q (p.Arg37Gln) variant details
- p.Arg37Gln
- TOPMed rs1486864119
- gnomAD rs1486864119
- Missense
- Variant Prioritization Score for Impact Estimate 0.541
- REVEL 0.46
- CADD 24.70
- PolyPhen-2 0.21
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available