R60Q (p.Arg60Gln) variant of PRKAA1 (Q13131)
R60Q (p.Arg60Gln) 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 0.62 / 1. The record also includes population frequency data and structural context.
R60Q (p.Arg60Gln) variant details
- p.Arg60Gln
- rs780617578
- NCI-TCGA Cosmic COSV5718
- cosmic curated COSV57183
- ExAC rs780617578
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.619
- REVEL 0.58
- MetaLR 0.33
- MetaSVM -0.38
- CADD 28.10
- PolyPhen-2 1.00
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available