R120S (p.Arg120Ser) variant of CYP27B1 (O15528)
R120S (p.Arg120Ser) in CYP27B1 (O15528) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Vitamin D-dependent rickets, type 1A; Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes published literature and structural context.
R120S (p.Arg120Ser) variant details
- p.Arg120Ser
- rs763451961
- ClinGen CA237815572
- ClinVar RCV003118956
- ClinVar RCV005011224
- Uncertain significance
- Vitamin D-dependent rickets, type 1A; Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.542
- ESM-1b 1.00
- AlphaMissense 0.38
- MetaLR 0.23
- MetaSVM -0.83
- PolyPhen-2 0.06
- SIFT 0.02
- ClinVar: Uncertain significance (Vitamin D-dependent rickets, type 1A; Inborn genetic diseases; n)
- 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)