L22P (p.Leu22Pro) variant of PRKAA2 (P54646)
L22P (p.Leu22Pro) in PRKAA2 (P54646) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
L22P (p.Leu22Pro) variant details
- p.Leu22Pro
- gnomAD 1-56645452-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.612
- REVEL 0.68
- MetaLR 0.38
- MetaSVM 0.02
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available