F19C (p.Phe19Cys) variant of WDR19 (WD repeat-containing protein 19)
F19C (p.Phe19Cys) 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; Jeune thoracic dystr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
F19C (p.Phe19Cys) variant details
- p.Phe19Cys
- rs1247231925
- ClinGen CA356630395
- ClinVar RCV000754961
- ClinVar RCV001236163
- Uncertain significance
- Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8; Jeune thoracic dystr
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- REVEL 0.21
- ESM-1b 0.22
- AlphaMissense 0.35
- MetaLR 0.06
- MetaSVM -1.13
- CADD 27.40
- ClinVar: Uncertain significance (Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8; Jeun)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:PATHAN population (allele frequency 0.083)
- Structural context available
- Cited in: Cranioectodermal Dysplasia. (PMID 24027799)