L40R (p.Leu40Arg) variant of ABCD1 (P33897)
L40R (p.Leu40Arg) in ABCD1 (P33897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
L40R (p.Leu40Arg) variant details
- p.Leu40Arg
- gnomAD X-153725385-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- REVEL 0.45
- CADD 17.70
- PolyPhen-2 0.17
- SIFT 0.28
- Population evidence available
- Structural context available
- Literature evidence available