K31M (p.Lys31Met) variant of PRKAA2 (P54646)
K31M (p.Lys31Met) in PRKAA2 (P54646) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
K31M (p.Lys31Met) variant details
- p.Lys31Met
- gnomAD 1-56645479-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- REVEL 0.41
- MetaLR 0.09
- MetaSVM -1.03
- CADD 33.00
- PolyPhen-2 0.93
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available