R2L (p.Arg2Leu) variant of PRKAA1 (Q13131)
R2L (p.Arg2Leu) in PRKAA1 (Q13131) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
R2L (p.Arg2Leu) variant details
- p.Arg2Leu
- gnomAD rs1426382824
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- REVEL 0.07
- CADD 23.90
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available