R2S (p.Arg2Ser) variant of PRKAA1 (Q13131)
R2S (p.Arg2Ser) in PRKAA1 (Q13131) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
R2S (p.Arg2Ser) variant details
- p.Arg2Ser
- gnomAD rs1033125825
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.10
- CADD 23.50
- PolyPhen-2 0.00
- SIFT 0.04
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available