R37G (p.Arg37Gly) variant of ABCD1 (P33897)
R37G (p.Arg37Gly) 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.
R37G (p.Arg37Gly) variant details
- p.Arg37Gly
- gnomAD X-153725375-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- REVEL 0.50
- CADD 18.20
- PolyPhen-2 0.06
- SIFT 0.42
- Population evidence available
- Structural context available
- Literature evidence available