G20R (p.Gly20Arg) variant of PRKAA1 (Q13131)
G20R (p.Gly20Arg) in PRKAA1 (Q13131) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
G20R (p.Gly20Arg) variant details
- p.Gly20Arg
- ESP rs199741192
- ExAC rs199741192
- TOPMed rs199741192
- gnomAD rs199741192
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- REVEL 0.39
- MetaLR 0.27
- MetaSVM -0.75
- CADD 24.70
- PolyPhen-2 0.86
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 0.00026)
- Structural context available