P32S (p.Pro32Ser) variant of CYP27A1 (Q02318)
P32S (p.Pro32Ser) in CYP27A1 (Q02318) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
P32S (p.Pro32Ser) variant details
- p.Pro32Ser
- ExAC rs748087582
- gnomAD rs748087582
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.21
- CADD 22.40
- PolyPhen-2 0.54
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available