R15C (p.Arg15Cys) variant of AKT2 (P31751)
R15C (p.Arg15Cys) in AKT2 (P31751) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
R15C (p.Arg15Cys) variant details
- p.Arg15Cys
- ExAC rs781407242
- TOPMed rs781407242
- gnomAD rs781407242
- Missense
- Variant Prioritization Score for Impact Estimate 0.788
- REVEL 0.76
- CADD 32.00
- PolyPhen-2 0.95
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available