G19D (p.Gly19Asp) variant of CYP27A1 (Q02318)
G19D (p.Gly19Asp) in CYP27A1 (Q02318) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
G19D (p.Gly19Asp) variant details
- p.Gly19Asp
- TOPMed rs1203579586
- gnomAD rs1203579586
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.37
- AlphaMissense 0.10
- MetaLR 0.39
- MetaSVM -0.51
- CADD 24.40
- PolyPhen-2 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 4e-05)
- Structural context available