P32H (p.Pro32His) variant of CYP27A1 (Q02318)
P32H (p.Pro32His) 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, published literature, and structural context.
P32H (p.Pro32His) variant details
- p.Pro32His
- gnomAD 2-218782277-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.14
- CADD 22.10
- PolyPhen-2 0.03
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available