L7P (p.Leu7Pro) variant of WDR19 (WD repeat-containing protein 19)
L7P (p.Leu7Pro) in WDR19 (WD repeat-containing protein 19) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Asphyxiating thoracic dystrophy 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
L7P (p.Leu7Pro) variant details
- p.Leu7Pro
- rs387906982
- ClinGen CA129407
- ClinVar RCV000023683
- UniProt VAR 067312
- Pathogenic
- Asphyxiating thoracic dystrophy 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- REVEL 0.58
- ESM-1b 0.00
- AlphaMissense 0.70
- MetaLR 0.39
- MetaSVM -0.13
- CADD 26.70
- ClinVar: Pathogenic (Asphyxiating thoracic dystrophy 5)
- EBI: Pathogenic (in SRTD5)
- UniProt: Pathogenic (in SRTD5)
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Cited in: Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19. (PMID 22019273)
- Cited in: Jeune syndrome: description of 13 cases and a proposal for follow-up protocol. (PMID 19430947)