L4I (p.Leu4Ile) variant of ABCD1 (P33897)
L4I (p.Leu4Ile) in ABCD1 (P33897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
L4I (p.Leu4Ile) variant details
- p.Leu4Ile
- gnomAD X-153725276-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.28
- CADD 22.90
- PolyPhen-2 0.93
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available