S25P (p.Ser25Pro) variant of WDR19 (WD repeat-containing protein 19)
S25P (p.Ser25Pro) 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 Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
S25P (p.Ser25Pro) variant details
- p.Ser25Pro
- rs2474999240
- ClinGen CA356630473
- ClinVar RCV002808342
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.10
- ESM-1b 0.89
- AlphaMissense 0.22
- MetaLR 0.03
- MetaSVM -1.06
- CADD 23.90
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)