A11V (p.Ala11Val) variant of PRKAA1 (Q13131)
A11V (p.Ala11Val) in PRKAA1 (Q13131) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
A11V (p.Ala11Val) variant details
- p.Ala11Val
- TOPMed rs867953599
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.34
- MetaLR 0.23
- MetaSVM -0.88
- CADD 23.50
- PolyPhen-2 0.02
- SIFT 0.01
- Population evidence available
- Structural context available