A43V (p.Ala43Val) variant of CYP27A1 (Q02318)
A43V (p.Ala43Val) in CYP27A1 (Q02318) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
A43V (p.Ala43Val) variant details
- p.Ala43Val
- ExAC rs759232939
- TOPMed rs759232939
- gnomAD rs759232939
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.168
- REVEL 0.07
- CADD 13.00
- PolyPhen-2 0.03
- SIFT 0.20
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available