R128Q (p.Arg128Gln) variant of GNA13 (Q14344)
R128Q (p.Arg128Gln) in GNA13 (Q14344) 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.
R128Q (p.Arg128Gln) variant details
- p.Arg128Gln
- TOPMed rs1322265190
- Missense
- Variant Prioritization Score for Impact Estimate 0.519
- REVEL 0.45
- MetaLR 0.66
- MetaSVM 0.37
- CADD 24.70
- PolyPhen-2 0.99
- SIFT 0.12
- Most common in the African/African-American population (allele frequency 3e-05)