L40Q (p.Leu40Gln) variant of ABCD1 (P33897)
L40Q (p.Leu40Gln) in ABCD1 (P33897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
L40Q (p.Leu40Gln) variant details
- p.Leu40Gln
- gnomAD X-153725385-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.31
- CADD 16.80
- PolyPhen-2 0.01
- SIFT 0.34
- Population evidence available
- Structural context available
- Literature evidence available