K12N (p.Lys12Asn) variant of PRKAA2 (P54646)
K12N (p.Lys12Asn) in PRKAA2 (P54646) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
K12N (p.Lys12Asn) variant details
- p.Lys12Asn
- gnomAD 1-56645423-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- REVEL 0.37
- MetaLR 0.34
- MetaSVM -0.46
- CADD 27.40
- PolyPhen-2 0.86
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available