R128W (p.Arg128Trp) variant of PRKAA1 (Q13131)
R128W (p.Arg128Trp) 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 0.60 / 1. The record also includes population frequency data and structural context.
R128W (p.Arg128Trp) variant details
- p.Arg128Trp
- rs865929015
- NCI-TCGA Cosmic COSV5718
- cosmic curated COSV57186
- TOPMed rs865929015
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.598
- REVEL 0.54
- MetaLR 0.18
- MetaSVM -0.82
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available