G12W (p.Gly12Trp) variant of ABCD1 (P33897)
G12W (p.Gly12Trp) in ABCD1 (P33897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
G12W (p.Gly12Trp) variant details
- p.Gly12Trp
- gnomAD X-153725300-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.31
- CADD 20.60
- PolyPhen-2 0.22
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available