L40M (p.Leu40Met) variant of ABCD1 (P33897)
L40M (p.Leu40Met) in ABCD1 (P33897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
L40M (p.Leu40Met) variant details
- p.Leu40Met
- gnomAD X-153725384-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.28
- CADD 18.80
- PolyPhen-2 0.56
- SIFT 0.19
- Population evidence available
- Structural context available
- Literature evidence available