L4F (p.Leu4Phe) variant of ABCD1 (P33897)
L4F (p.Leu4Phe) in ABCD1 (P33897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
L4F (p.Leu4Phe) variant details
- p.Leu4Phe
- gnomAD X-153725276-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.30
- CADD 23.20
- PolyPhen-2 0.98
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available