R17L (p.Arg17Leu) variant of ABCD1 (P33897)
R17L (p.Arg17Leu) in ABCD1 (P33897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
R17L (p.Arg17Leu) variant details
- p.Arg17Leu
- gnomAD X-153725316-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.555
- REVEL 0.56
- CADD 21.20
- PolyPhen-2 0.18
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available