G125R (p.Gly125Arg) variant of CYP27B1 (O15528)
G125R (p.Gly125Arg) in CYP27B1 (O15528) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
G125R (p.Gly125Arg) variant details
- p.Gly125Arg
- rs1555202494
- ClinGen CA385507606
- ClinVar RCV000498710
- gnomAD rs1555202494
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- ESM-1b 1.00
- AlphaMissense 0.94
- MetaLR 0.57
- MetaSVM 0.24
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic (in VDDR1A)
- UniProt: Likely pathogenic (in VDDR1A)
- Population evidence available
- Structural context available