R14C (p.Arg14Cys) variant of CYP27B1 (O15528)
R14C (p.Arg14Cys) 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; Vitamin D-dependent rickets, type 1; not p. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
R14C (p.Arg14Cys) variant details
- p.Arg14Cys
- rs150648140
- ClinGen CA6658562
- ClinVar RCV000309324
- ClinVar RCV001859852
- Uncertain significance
- Vitamin D-dependent rickets, type 1A; Vitamin D-dependent rickets, type 1; not p
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- ESM-1b 0.00
- AlphaMissense 0.14
- MetaLR 0.24
- MetaSVM -0.40
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Uncertain significance (Vitamin D-dependent rickets, type 1A; Vitamin D-dependent ricket)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available