G24R (p.Gly24Arg) variant of CYP27A1 (Q02318)
G24R (p.Gly24Arg) in CYP27A1 (Q02318) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Cholestanol storage disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
G24R (p.Gly24Arg) variant details
- p.Gly24Arg
- Ensembl rs1200489164
- Uncertain significance
- Cholestanol storage disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.156
- REVEL 0.08
- CADD 16.00
- PolyPhen-2 0.01
- SIFT 0.11
- ClinVar: Uncertain significance (Cholestanol storage disease)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available