A7V (p.Ala7Val) variant of CYP27A1 (Q02318)
A7V (p.Ala7Val) 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; CYP27A1-related disorder; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
A7V (p.Ala7Val) variant details
- p.Ala7Val
- rs1364383591
- ClinGen CA350575341
- ClinVar RCV001844522
- ClinVar RCV002034725
- Uncertain significance
- Cardiovascular phenotype; CYP27A1-related disorder; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.185
- REVEL 0.11
- CADD 16.40
- PolyPhen-2 0.00
- SIFT 0.27
- ClinVar: Uncertain significance (Cardiovascular phenotype; CYP27A1-related disorder; not specifie)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.0002)
- Structural context available
- Cited in: Cerebrotendinous Xanthomatosis. (PMID 20301583)