A2T (p.Ala2Thr) variant of PRKAA2 (P54646)
A2T (p.Ala2Thr) 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.
A2T (p.Ala2Thr) variant details
- p.Ala2Thr
- gnomAD 1-56645391-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.20
- CADD 22.60
- PolyPhen-2 0.04
- SIFT 0.35
- Population evidence available
- Structural context available
- Literature evidence available