R19C (p.Arg19Cys) variant of AICDA (Q9GZX7)
R19C (p.Arg19Cys) in AICDA (Q9GZX7) 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 0.63 / 1. The record also includes population frequency data and structural context.
R19C (p.Arg19Cys) variant details
- p.Arg19Cys
- NCI-TCGA Cosmic COSV5756
- cosmic curated COSV57564
- TOPMed rs1941296567
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- REVEL 0.59
- MetaLR 0.48
- MetaSVM -0.08
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available