H23N (p.His23Asn) variant of CYP27A1 (Q02318)
H23N (p.His23Asn) in CYP27A1 (Q02318) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
H23N (p.His23Asn) variant details
- p.His23Asn
- rs1255948354
- ClinGen CA350575694
- ClinVar RCV002369470
- ClinVar RCV004793791
- Uncertain significance
- Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.124
- REVEL 0.08
- CADD 4.89
- PolyPhen-2 0.01
- SIFT 0.34
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)
- Structural context available