H23P (p.His23Pro) variant of CYP27A1 (Q02318)
H23P (p.His23Pro) in CYP27A1 (Q02318) is a missense change. Clinical records from ClinVar, EBI, 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 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
H23P (p.His23Pro) variant details
- p.His23Pro
- rs1943398664
- ClinGen CA350575697
- ClinVar RCV001965377
- gnomAD rs1943398664
- Uncertain significance
- Cholestanol storage disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.114
- REVEL 0.14
- CADD 0.10
- ClinVar: Uncertain significance (Cholestanol storage disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Cerebrotendinous Xanthomatosis. (PMID 20301583)