F27L (p.Phe27Leu) variant of PRKAA2 (P54646)
F27L (p.Phe27Leu) in PRKAA2 (P54646) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
F27L (p.Phe27Leu) variant details
- p.Phe27Leu
- ExAC rs749587981
- gnomAD rs749587981
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.44
- MetaLR 0.21
- MetaSVM -0.52
- CADD 32.00
- PolyPhen-2 0.63
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9.5e-07)
- Structural context available