L4P (p.Leu4Pro) variant of CYP27A1 (Q02318)
L4P (p.Leu4Pro) in CYP27A1 (Q02318) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
L4P (p.Leu4Pro) variant details
- p.Leu4Pro
- rs868195486
- TOPMed rs868195486
- gnomAD rs868195486
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.44
- CADD 24.00
- PolyPhen-2 0.46
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available