R43C (p.Arg43Cys) variant of WDR19 (WD repeat-containing protein 19)
R43C (p.Arg43Cys) in WDR19 (WD repeat-containing protein 19) 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 0.61 / 1. The record also includes population frequency data and structural context.
R43C (p.Arg43Cys) variant details
- p.Arg43Cys
- rs1376704482
- NCI-TCGA Cosmic COSV5646
- cosmic curated COSV56463
- TOPMed rs1376704482
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.606
- REVEL 0.45
- ESM-1b 1.00
- AlphaMissense 0.47
- MetaLR 0.40
- MetaSVM -0.17
- CADD 31.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.2)
- Structural context available