P7T (p.Pro7Thr) variant of ABCD1 (P33897)
P7T (p.Pro7Thr) in ABCD1 (P33897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
P7T (p.Pro7Thr) variant details
- p.Pro7Thr
- gnomAD X-153725285-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.28
- CADD 1.05
- PolyPhen-2 0.02
- SIFT 0.55
- Population evidence available
- Structural context available
- Literature evidence available