R2C (p.Arg2Cys) variant of PRKAA1 (Q13131)
R2C (p.Arg2Cys) 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 0.42 / 1. The record also includes population frequency data and structural context.
R2C (p.Arg2Cys) variant details
- p.Arg2Cys
- rs1033125825
- NCI-TCGA Cosmic COSV5718
- cosmic curated COSV57184
- gnomAD rs1033125825
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.23
- CADD 25.00
- PolyPhen-2 0.13
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 2.5e-05)
- Structural context available