R23Q (p.Arg23Gln) variant of AKT1 (P31749)
R23Q (p.Arg23Gln) in AKT1 (P31749) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Cowden syndrome 6. 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.
R23Q (p.Arg23Gln) variant details
- p.Arg23Gln
- rs1892954317
- ClinGen CA391221777
- cosmic curated COSV62573
- ClinVar RCV001294691
- Uncertain significance
- not provided; Cowden syndrome 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.785
- CADD 27.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Cowden syndrome 6)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available