H7L (p.His7Leu) variant of PRKAA2 (P54646)
H7L (p.His7Leu) in PRKAA2 (P54646) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
H7L (p.His7Leu) variant details
- p.His7Leu
- gnomAD 1-56645407-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.35
- MetaLR 0.20
- MetaSVM -0.87
- CADD 22.20
- PolyPhen-2 0.00
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available