H7R (p.His7Arg) variant of PRKAA2 (P54646)
H7R (p.His7Arg) in PRKAA2 (P54646) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
H7R (p.His7Arg) variant details
- p.His7Arg
- gnomAD 1-56645407-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.28
- CADD 21.10
- PolyPhen-2 0.07
- SIFT 0.50
- Population evidence available
- Structural context available
- Literature evidence available