K31N (p.Lys31Asn) variant of PRKAA2 (P54646)
K31N (p.Lys31Asn) in PRKAA2 (P54646) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
K31N (p.Lys31Asn) variant details
- p.Lys31Asn
- gnomAD 1-56645480-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.20
- MetaLR 0.07
- MetaSVM -1.04
- CADD 25.50
- PolyPhen-2 0.21
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available