P22L (p.Pro22Leu) variant of CYP27A1 (Q02318)
P22L (p.Pro22Leu) 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 0.36 / 1. The record also includes population frequency data and structural context.
P22L (p.Pro22Leu) variant details
- p.Pro22Leu
- NCI-TCGA Cosmic COSV5146
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.29
- CADD 15.70
- PolyPhen-2 0.37
- SIFT 0.14
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available