R17S (p.Arg17Ser) variant of ABCD1 (P33897)
R17S (p.Arg17Ser) in ABCD1 (P33897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
R17S (p.Arg17Ser) variant details
- p.Arg17Ser
- gnomAD X-153725315-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- REVEL 0.51
- CADD 18.40
- PolyPhen-2 0.10
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available