T18P (p.Thr18Pro) variant of ABCD1 (P33897)
T18P (p.Thr18Pro) in ABCD1 (P33897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
T18P (p.Thr18Pro) variant details
- p.Thr18Pro
- gnomAD X-153725318-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- REVEL 0.62
- CADD 16.40
- PolyPhen-2 0.13
- SIFT 0.29
- Population evidence available
- Structural context available
- Literature evidence available