D8V (p.Asp8Val) variant of PRKAA2 (P54646)
D8V (p.Asp8Val) in PRKAA2 (P54646) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
D8V (p.Asp8Val) variant details
- p.Asp8Val
- gnomAD 1-56645410-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.24
- MetaLR 0.21
- MetaSVM -0.89
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available