P50S (p.Pro50Ser) variant of AKT2 (P31751)
P50S (p.Pro50Ser) in AKT2 (P31751) 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.
P50S (p.Pro50Ser) variant details
- p.Pro50Ser
- 1000Genomes rs184042322
- ExAC rs184042322
- TOPMed rs184042322
- gnomAD rs184042322
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.11
- CADD 21.50
- PolyPhen-2 0.01
- SIFT 0.42
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available