P36T (p.Pro36Thr) variant of CYP27A1 (Q02318)
P36T (p.Pro36Thr) in CYP27A1 (Q02318) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
P36T (p.Pro36Thr) variant details
- p.Pro36Thr
- gnomAD 2-218782288-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.08
- CADD 11.10
- PolyPhen-2 0.00
- SIFT 0.29
- Population evidence available
- Structural context available
- Literature evidence available