A27T (p.Ala27Thr) variant of CYP27A1 (Q02318)
A27T (p.Ala27Thr) in CYP27A1 (Q02318) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
A27T (p.Ala27Thr) variant details
- p.Ala27Thr
- gnomAD 2-218782261-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.154
- REVEL 0.06
- CADD 19.00
- PolyPhen-2 0.02
- SIFT 0.11
- Population evidence available
- Structural context available
- Literature evidence available