T18A (p.Thr18Ala) variant of ABCD1 (P33897)
T18A (p.Thr18Ala) in ABCD1 (P33897) 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.
T18A (p.Thr18Ala) variant details
- p.Thr18Ala
- gnomAD X-153725318-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.35
- CADD 12.60
- PolyPhen-2 0.01
- SIFT 0.84
- Population evidence available
- Structural context available
- Literature evidence available