R3C (p.Arg3Cys) variant of WDR19 (WD repeat-containing protein 19)
R3C (p.Arg3Cys) in WDR19 (WD repeat-containing protein 19) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
R3C (p.Arg3Cys) variant details
- p.Arg3Cys
- rs1725441648
- ClinGen CA356630197
- cosmic curated COSV10517
- ClinVar RCV002913094
- Uncertain significance
- Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.17
- MetaLR 0.37
- MetaSVM -0.45
- CADD 27.20
- ClinVar: Uncertain significance (Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:TU population (allele frequency 0.1)
- Structural context available