A25G (p.Ala25Gly) variant of ABCD1 (P33897)
A25G (p.Ala25Gly) in ABCD1 (P33897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
A25G (p.Ala25Gly) variant details
- p.Ala25Gly
- gnomAD X-153725340-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.28
- CADD 19.00
- PolyPhen-2 0.10
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available