R104Q (p.Arg104Gln) variant of CYP27B1 (O15528)
R104Q (p.Arg104Gln) in CYP27B1 (O15528) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Vitamin D-dependent rickets, type 1A; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
R104Q (p.Arg104Gln) variant details
- p.Arg104Gln
- rs370689065
- ClinGen CA6658500
- ClinVar RCV002715601
- ClinVar RCV005002873
- Conflicting interpretations
- not provided; Vitamin D-dependent rickets, type 1A; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.07
- MetaSVM -1.05
- PolyPhen-2 0.18
- SIFT 0.07
- ClinVar: Conflicting classifications of pathogenicity (not provided; Vitamin D-dependent rickets, type 1A; not specifie)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available