D20G (p.Asp20Gly) variant of PRKAA2 (P54646)
D20G (p.Asp20Gly) in PRKAA2 (P54646) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
D20G (p.Asp20Gly) variant details
- p.Asp20Gly
- gnomAD 1-56645446-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.30
- MetaLR 0.05
- MetaSVM -1.03
- CADD 26.20
- PolyPhen-2 0.29
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available