L20P (p.Leu20Pro) variant of CYP27A1 (Q02318)
L20P (p.Leu20Pro) in CYP27A1 (Q02318) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
L20P (p.Leu20Pro) variant details
- p.Leu20Pro
- Ensembl rs1943398374
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- REVEL 0.42
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available