K12R (p.Lys12Arg) variant of PRKAA2 (P54646)
K12R (p.Lys12Arg) in PRKAA2 (P54646) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
K12R (p.Lys12Arg) variant details
- p.Lys12Arg
- 1000Genomes rs752436954
- ExAC rs752436954
- TOPMed rs752436954
- gnomAD rs752436954
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.14
- MetaLR 0.16
- MetaSVM -1.00
- CADD 23.60
- PolyPhen-2 0.03
- SIFT 0.17
- Most common in the 1KG:GBR population (allele frequency 0.0057)
- Structural context available