L21R (p.Leu21Arg) variant of ABCD1 (P33897)
L21R (p.Leu21Arg) in ABCD1 (P33897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
L21R (p.Leu21Arg) variant details
- p.Leu21Arg
- ExAC rs782611595
- gnomAD rs782611595
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.31
- CADD 16.80
- PolyPhen-2 0.01
- SIFT 0.16
- Population evidence available
- Structural context available