T114R (p.Thr114Arg) variant of CYP27B1 (O15528)
T114R (p.Thr114Arg) in CYP27B1 (O15528) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. 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.
T114R (p.Thr114Arg) variant details
- p.Thr114Arg
- rs1247839240
- ClinGen CA385507797
- ClinVar RCV002012335
- gnomAD rs1247839240
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.10
- MetaSVM -1.06
- PolyPhen-2 0.00
- SIFT 0.33
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available