T14M (p.Thr14Met) variant of ABCD1 (P33897)
T14M (p.Thr14Met) in ABCD1 (P33897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
T14M (p.Thr14Met) variant details
- p.Thr14Met
- gnomAD X-153725307-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.25
- CADD 17.10
- PolyPhen-2 0.37
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available