L22Q (p.Leu22Gln) variant of PRKAA2 (P54646)
L22Q (p.Leu22Gln) in PRKAA2 (P54646) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
L22Q (p.Leu22Gln) variant details
- p.Leu22Gln
- gnomAD 1-56645452-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.587
- REVEL 0.63
- MetaLR 0.38
- MetaSVM 0.01
- CADD 30.00
- PolyPhen-2 0.98
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available