P36L (p.Pro36Leu) variant of CYP27A1 (Q02318)
P36L (p.Pro36Leu) in CYP27A1 (Q02318) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
P36L (p.Pro36Leu) variant details
- p.Pro36Leu
- gnomAD rs1233931786
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.07
- CADD 13.90
- PolyPhen-2 0.03
- SIFT 0.20
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available