P2L (p.Pro2Leu) variant of ABCD1 (P33897)
P2L (p.Pro2Leu) in ABCD1 (P33897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
P2L (p.Pro2Leu) variant details
- p.Pro2Leu
- gnomAD X-153725271-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.27
- CADD 21.00
- PolyPhen-2 0.01
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available