R37S (p.Arg37Ser) variant of ABCD1 (P33897)
R37S (p.Arg37Ser) in ABCD1 (P33897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
R37S (p.Arg37Ser) variant details
- p.Arg37Ser
- gnomAD X-153725375-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.42
- CADD 16.40
- PolyPhen-2 0.06
- SIFT 0.69
- Population evidence available
- Structural context available
- Literature evidence available