T21K (p.Thr21Lys) variant of PRKAA2 (P54646)
T21K (p.Thr21Lys) in PRKAA2 (P54646) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
T21K (p.Thr21Lys) variant details
- p.Thr21Lys
- gnomAD 1-56645449-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.33
- MetaLR 0.07
- MetaSVM -1.05
- CADD 25.90
- PolyPhen-2 0.60
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available