P9H (p.Pro9His) variant of ABCD1 (P33897)
P9H (p.Pro9His) in ABCD1 (P33897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
P9H (p.Pro9His) variant details
- p.Pro9His
- gnomAD X-153725292-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.23
- CADD 8.57
- PolyPhen-2 0.05
- SIFT 0.15
- Population evidence available
- Structural context available
- Literature evidence available