L49P (p.Leu49Pro) variant of AKT2 (P31751)
L49P (p.Leu49Pro) in AKT2 (P31751) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
L49P (p.Leu49Pro) variant details
- p.Leu49Pro
- 1000Genomes rs201917021
- ExAC rs201917021
- TOPMed rs201917021
- gnomAD rs201917021
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.20
- CADD 19.40
- PolyPhen-2 0.25
- SIFT 0.25
- Most common in the 1KG:CHB population (allele frequency 0.0049)
- Structural context available