P34T (p.Pro34Thr) variant of ABCD1 (P33897)
P34T (p.Pro34Thr) in ABCD1 (P33897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
P34T (p.Pro34Thr) variant details
- p.Pro34Thr
- gnomAD X-153725366-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.721
- REVEL 0.75
- CADD 23.40
- PolyPhen-2 0.74
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available