K42R (p.Lys42Arg) variant of PRKAA1 (Q13131)
K42R (p.Lys42Arg) in PRKAA1 (Q13131) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
K42R (p.Lys42Arg) variant details
- p.Lys42Arg
- Ensembl rs2112121832
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- REVEL 0.34
- MetaLR 0.04
- MetaSVM -1.06
- CADD 27.90
- PolyPhen-2 0.39
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available