D20Y (p.Asp20Tyr) variant of PRKAA2 (P54646)
D20Y (p.Asp20Tyr) in PRKAA2 (P54646) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
D20Y (p.Asp20Tyr) variant details
- p.Asp20Tyr
- gnomAD 1-56645445-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- REVEL 0.42
- MetaLR 0.14
- MetaSVM -0.87
- CADD 32.00
- PolyPhen-2 0.95
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available