R11L (p.Arg11Leu) variant of ABCD1 (P33897)
R11L (p.Arg11Leu) in ABCD1 (P33897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
R11L (p.Arg11Leu) variant details
- p.Arg11Leu
- gnomAD X-153725298-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- REVEL 0.52
- CADD 16.10
- PolyPhen-2 0.00
- SIFT 0.21
- Population evidence available
- Structural context available
- Literature evidence available