I31T (p.Ile31Thr) variant of CYP27A1 (Q02318)
I31T (p.Ile31Thr) 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.
I31T (p.Ile31Thr) variant details
- p.Ile31Thr
- gnomAD 2-218782274-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.18
- CADD 22.20
- PolyPhen-2 0.05
- SIFT 0.20
- Population evidence available
- Structural context available
- Literature evidence available