R43H (p.Arg43His) variant of WDR19 (WD repeat-containing protein 19)
R43H (p.Arg43His) 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 Senior-Loken syndrome 8; Asphyxiating thoracic dystrophy 5; Cranioectodermal dys. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
R43H (p.Arg43His) variant details
- p.Arg43His
- rs770312522
- ClinGen CA2891542
- cosmic curated COSV56467
- ClinVar RCV001148842
- Uncertain significance
- Senior-Loken syndrome 8; Asphyxiating thoracic dystrophy 5; Cranioectodermal dys
- Missense
- Variant Prioritization Score for Impact Estimate 0.548
- REVEL 0.36
- ESM-1b 1.00
- AlphaMissense 0.41
- MetaLR 0.38
- MetaSVM -0.29
- CADD 25.50
- ClinVar: Uncertain significance (Senior-Loken syndrome 8; Asphyxiating thoracic dystrophy 5; Cran)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Cranioectodermal Dysplasia. (PMID 24027799)