A23V (p.Ala23Val) variant of ABCD1 (P33897)
A23V (p.Ala23Val) in ABCD1 (P33897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
A23V (p.Ala23Val) variant details
- p.Ala23Val
- gnomAD X-153725334-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- REVEL 0.40
- CADD 15.70
- PolyPhen-2 0.11
- SIFT 0.64
- Population evidence available
- Structural context available
- Literature evidence available