P32T (p.Pro32Thr) variant of CYP27A1 (Q02318)
P32T (p.Pro32Thr) in CYP27A1 (Q02318) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
P32T (p.Pro32Thr) variant details
- p.Pro32Thr
- gnomAD 2-218782276-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.22
- CADD 21.90
- PolyPhen-2 0.62
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available