A19D (p.Ala19Asp) variant of ABCD1 (P33897)
A19D (p.Ala19Asp) in ABCD1 (P33897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
A19D (p.Ala19Asp) variant details
- p.Ala19Asp
- gnomAD X-153725322-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.68
- REVEL 0.68
- CADD 23.30
- PolyPhen-2 0.83
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available