R11W (p.Arg11Trp) variant of ABCD1 (P33897)
R11W (p.Arg11Trp) in ABCD1 (P33897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
R11W (p.Arg11Trp) variant details
- p.Arg11Trp
- gnomAD X-153725297-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- REVEL 0.49
- CADD 22.50
- PolyPhen-2 0.54
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available