A23S (p.Ala23Ser) variant of ABCD1 (P33897)
A23S (p.Ala23Ser) in ABCD1 (P33897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
A23S (p.Ala23Ser) variant details
- p.Ala23Ser
- gnomAD X-153725333-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- REVEL 0.37
- CADD 22.00
- PolyPhen-2 0.27
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available