R2G (p.Arg2Gly) variant of PRKAA1 (Q13131)
R2G (p.Arg2Gly) in PRKAA1 (Q13131) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
R2G (p.Arg2Gly) variant details
- p.Arg2Gly
- gnomAD rs1033125825
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.13
- CADD 23.90
- PolyPhen-2 0.01
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available