R73C (p.Arg73Cys) variant of PRKAA1 (Q13131)
R73C (p.Arg73Cys) in PRKAA1 (Q13131) 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 0.58 / 1. The record also includes population frequency data and structural context.
R73C (p.Arg73Cys) variant details
- p.Arg73Cys
- rs200927672
- NCI-TCGA Cosmic COSV9971
- cosmic curated COSV99713
- 1000Genomes rs200927672
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.576
- REVEL 0.52
- MetaLR 0.48
- MetaSVM -0.08
- CADD 31.00
- PolyPhen-2 0.94
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:GBR population (allele frequency 0.0057)
- Structural context available