L15Q (p.Leu15Gln) variant of ABCD1 (P33897)
L15Q (p.Leu15Gln) 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.
L15Q (p.Leu15Gln) variant details
- p.Leu15Gln
- gnomAD X-153725310-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- REVEL 0.43
- CADD 20.80
- PolyPhen-2 0.29
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available