A25G (p.Ala25Gly) variant of CYP27A1 (Q02318)
A25G (p.Ala25Gly) in CYP27A1 (Q02318) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes structural context.
A25G (p.Ala25Gly) variant details
- p.Ala25Gly
- rs2106479103
- ClinGen CA350575751
- ClinVar RCV001844520
- Ensembl rs2106479103
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- AlphaMissense 0.08
- MetaLR 0.19
- MetaSVM -0.74
- PolyPhen-2 0.88
- SIFT 0.24
- MutPred 0.29
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available