A23P (p.Ala23Pro) variant of ABCD1 (P33897)
A23P (p.Ala23Pro) in ABCD1 (P33897) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
A23P (p.Ala23Pro) variant details
- p.Ala23Pro
- gnomAD X-153725331-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.546
- CADD 23.40
- Population evidence available
- Structural context available
- Literature evidence available