G9V (p.Gly9Val) variant of PRKAA2 (P54646)
G9V (p.Gly9Val) in PRKAA2 (P54646) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
G9V (p.Gly9Val) variant details
- p.Gly9Val
- TOPMed rs1434366087
- gnomAD rs1434366087
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- REVEL 0.36
- MetaLR 0.20
- MetaSVM -0.73
- CADD 23.20
- PolyPhen-2 0.20
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available