R10L (p.Arg10Leu) variant of PRKAA2 (P54646)
R10L (p.Arg10Leu) in PRKAA2 (P54646) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
R10L (p.Arg10Leu) variant details
- p.Arg10Leu
- gnomAD 1-56645416-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.25
- MetaLR 0.18
- MetaSVM -0.96
- CADD 23.50
- PolyPhen-2 0.00
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available