R8L (p.Arg8Leu) variant of ABCD1 (P33897)
R8L (p.Arg8Leu) in ABCD1 (P33897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
R8L (p.Arg8Leu) variant details
- p.Arg8Leu
- gnomAD X-153725289-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.40
- CADD 13.60
- PolyPhen-2 0.04
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available