G12R (p.Gly12Arg) variant of ABCD1 (P33897)
G12R (p.Gly12Arg) in ABCD1 (P33897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
G12R (p.Gly12Arg) variant details
- p.Gly12Arg
- gnomAD X-153725300-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.28
- CADD 12.70
- PolyPhen-2 0.00
- SIFT 0.55
- Population evidence available
- Structural context available
- Literature evidence available