T41A (p.Thr41Ala) variant of CYP27A1 (Q02318)
T41A (p.Thr41Ala) in CYP27A1 (Q02318) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
T41A (p.Thr41Ala) variant details
- p.Thr41Ala
- gnomAD 2-218782303-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0852
- REVEL 0.09
- CADD 1.28
- PolyPhen-2 0.00
- SIFT 0.87
- Population evidence available
- Structural context available
- Literature evidence available