H23R (p.His23Arg) variant of CYP27A1 (Q02318)
H23R (p.His23Arg) 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 0.07 / 1. The record also includes population frequency data and structural context.
H23R (p.His23Arg) variant details
- p.His23Arg
- rs1943398664
- ClinGen CA350575701
- ClinVar RCV001844523
- gnomAD rs1943398664
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0701
- REVEL 0.08
- CADD 0.02
- PolyPhen-2 0.00
- SIFT 0.39
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.2e-05)
- Structural context available