D38V (p.Asp38Val) variant of CYP27A1 (Q02318)
D38V (p.Asp38Val) in CYP27A1 (Q02318) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Cholestanol storage disease; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
D38V (p.Asp38Val) variant details
- p.Asp38Val
- rs1201499588
- ClinGen CA350576011
- ClinVar RCV001926421
- ClinVar RCV004044182
- Uncertain significance
- not provided; Cholestanol storage disease; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.165
- REVEL 0.09
- CADD 15.80
- PolyPhen-2 0.01
- SIFT 0.23
- ClinVar: Uncertain significance (not provided; Cholestanol storage disease; Cardiovascular phenot)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Cerebrotendinous Xanthomatosis. (PMID 20301583)