R120C (p.Arg120Cys) variant of CYP27B1 (O15528)
R120C (p.Arg120Cys) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes published literature and structural context.
R120C (p.Arg120Cys) variant details
- p.Arg120Cys
- rs763451961
- ClinGen CA6658487
- NCI-TCGA Cosmic COSV5734
- ClinVar RCV002671700
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- ESM-1b 0.50
- AlphaMissense 0.38
- MetaLR 0.23
- MetaSVM -0.83
- PolyPhen-2 0.06
- SIFT 0.02
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)