R69Q (p.Arg69Gln) variant of AKT2 (P31751)
R69Q (p.Arg69Gln) in AKT2 (P31751) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
R69Q (p.Arg69Gln) variant details
- p.Arg69Gln
- rs1485745630
- NCI-TCGA Cosmic COSV6090
- cosmic curated COSV60909
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- REVEL 0.38
- CADD 21.70
- PolyPhen-2 0.15
- SIFT 0.06
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available