P32L (p.Pro32Leu) variant of CYP27A1 (Q02318)
P32L (p.Pro32Leu) in CYP27A1 (Q02318) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
P32L (p.Pro32Leu) variant details
- p.Pro32Leu
- TOPMed rs1328145460
- gnomAD rs1328145460
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.30
- CADD 23.80
- PolyPhen-2 0.64
- SIFT 0.02
- Most common in the Latino/Admixed American population (allele frequency 2.5e-05)
- Structural context available