R128Q (p.Arg128Gln) variant of PRKAA1 (Q13131)
R128Q (p.Arg128Gln) 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 0.48 / 1. The record also includes population frequency data and structural context.
R128Q (p.Arg128Gln) variant details
- p.Arg128Gln
- rs1263050834
- NCI-TCGA Cosmic COSV5718
- cosmic curated COSV57186
- gnomAD rs1263050834
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.39
- MetaLR 0.14
- MetaSVM -0.95
- CADD 29.50
- PolyPhen-2 0.97
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 5.1e-05)
- Structural context available