R3K (p.Arg3Lys) variant of PRKAA1 (Q13131)
R3K (p.Arg3Lys) in PRKAA1 (Q13131) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
R3K (p.Arg3Lys) variant details
- p.Arg3Lys
- gnomAD rs1188565639
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.15
- CADD 17.80
- PolyPhen-2 0.00
- SIFT 0.19
- Most common in the Latino/Admixed American population (allele frequency 5.4e-05)
- Structural context available