P7L (p.Pro7Leu) variant of ABCD1 (P33897)
P7L (p.Pro7Leu) in ABCD1 (P33897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
P7L (p.Pro7Leu) variant details
- p.Pro7Leu
- gnomAD X-153725286-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.25
- CADD 9.45
- PolyPhen-2 0.00
- SIFT 0.55
- Population evidence available
- Structural context available
- Literature evidence available