C21W (p.Cys21Trp) variant of CYP27A1 (Q02318)
C21W (p.Cys21Trp) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes structural context.
C21W (p.Cys21Trp) variant details
- p.Cys21Trp
- rs781222632
- ClinGen CA350575655
- ClinVar RCV000730190
- ClinVar RCV001844230
- Uncertain significance
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- AlphaMissense 0.16
- MetaLR 0.23
- MetaSVM -0.78
- PolyPhen-2 0.98
- SIFT 0.05
- MutPred 0.45
- ClinVar: Uncertain significance (not specified; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available