I13F (p.Ile13Phe) variant of PRKAA2 (P54646)
I13F (p.Ile13Phe) in PRKAA2 (P54646) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
I13F (p.Ile13Phe) variant details
- p.Ile13Phe
- ExAC rs757985759
- TOPMed rs757985759
- gnomAD rs757985759
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.24
- MetaLR 0.08
- MetaSVM -1.10
- CADD 27.80
- PolyPhen-2 0.93
- SIFT 0.00
- Population evidence available
- Structural context available