L48F (p.Leu48Phe) variant of PRKAA1 (Q13131)
L48F (p.Leu48Phe) in PRKAA1 (Q13131) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
L48F (p.Leu48Phe) variant details
- p.Leu48Phe
- Ensembl rs755206740
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.30
- MetaLR 0.29
- MetaSVM -0.55
- CADD 22.70
- PolyPhen-2 0.87
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available