P34L (p.Pro34Leu) variant of ABCD1 (P33897)
P34L (p.Pro34Leu) in ABCD1 (P33897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
P34L (p.Pro34Leu) variant details
- p.Pro34Leu
- gnomAD X-153725367-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.668
- REVEL 0.68
- CADD 22.60
- PolyPhen-2 0.05
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available