W17R (p.Trp17Arg) variant of CYP27B1 (O15528)
W17R (p.Trp17Arg) in CYP27B1 (O15528) 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 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
W17R (p.Trp17Arg) variant details
- p.Trp17Arg
- rs761902845
- ClinGen CA237818317
- ClinVar RCV004367841
- ExAC rs761902845
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- ESM-1b 0.00
- AlphaMissense 0.15
- MetaLR 0.13
- MetaSVM -1.02
- PolyPhen-2 0.00
- SIFT 0.87
- 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)