A29T (p.Ala29Thr) variant of ABCD1 (P33897)
A29T (p.Ala29Thr) in ABCD1 (P33897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
A29T (p.Ala29Thr) variant details
- p.Ala29Thr
- gnomAD X-153725351-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.23
- CADD 19.00
- PolyPhen-2 0.02
- SIFT 0.19
- Population evidence available
- Structural context available
- Literature evidence available