L40P (p.Leu40Pro) variant of ABCD1 (P33897)
L40P (p.Leu40Pro) in ABCD1 (P33897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
L40P (p.Leu40Pro) variant details
- p.Leu40Pro
- gnomAD X-153725385-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- REVEL 0.44
- CADD 18.30
- PolyPhen-2 0.00
- SIFT 0.16
- Population evidence available
- Structural context available
- Literature evidence available