A23T (p.Ala23Thr) variant of ABCD1 (P33897)
A23T (p.Ala23Thr) in ABCD1 (P33897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
A23T (p.Ala23Thr) variant details
- p.Ala23Thr
- gnomAD X-153725333-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- REVEL 0.39
- CADD 18.80
- PolyPhen-2 0.34
- SIFT 0.36
- Population evidence available
- Structural context available
- Literature evidence available