F27I (p.Phe27Ile) variant of PRKAA2 (P54646)
F27I (p.Phe27Ile) in PRKAA2 (P54646) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
F27I (p.Phe27Ile) variant details
- p.Phe27Ile
- gnomAD 1-56645466-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.535
- REVEL 0.53
- MetaLR 0.31
- MetaSVM -0.17
- CADD 31.00
- PolyPhen-2 0.97
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available