Y16H (p.Tyr16His) variant of PRKAA2 (P54646)
Y16H (p.Tyr16His) in PRKAA2 (P54646) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
Y16H (p.Tyr16His) variant details
- p.Tyr16His
- gnomAD 1-56645433-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.539
- REVEL 0.54
- MetaLR 0.33
- MetaSVM -0.18
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available