A335V (p.Ala335Val) variant of CYP27A1 (Q02318)
A335V (p.Ala335Val) in CYP27A1 (Q02318) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Cholestanol storage disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data and structural context.
A335V (p.Ala335Val) variant details
- p.Ala335Val
- Ensembl rs1943741863
- Likely pathogenic
- Cholestanol storage disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.895
- REVEL 0.96
- CADD 28.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Cholestanol storage disease)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available