S5T (p.Ser5Thr) variant of ABCD1 (P33897)
S5T (p.Ser5Thr) in ABCD1 (P33897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
S5T (p.Ser5Thr) variant details
- p.Ser5Thr
- gnomAD X-153725279-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.33
- CADD 21.30
- PolyPhen-2 0.14
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available