H15Q (p.His15Gln) variant of PRKAA2 (P54646)
H15Q (p.His15Gln) in PRKAA2 (P54646) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
H15Q (p.His15Gln) variant details
- p.His15Gln
- gnomAD 1-56645432-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.09
- MetaLR 0.03
- MetaSVM -1.08
- CADD 21.70
- PolyPhen-2 0.02
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available