G28R (p.Gly28Arg) variant of ABCD1 (P33897)
G28R (p.Gly28Arg) in ABCD1 (P33897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
G28R (p.Gly28Arg) variant details
- p.Gly28Arg
- gnomAD X-153725348-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.739
- REVEL 0.77
- CADD 24.80
- PolyPhen-2 0.69
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available