C39Y (p.Cys39Tyr) variant of ABCD1 (P33897)
C39Y (p.Cys39Tyr) in ABCD1 (P33897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
C39Y (p.Cys39Tyr) variant details
- p.Cys39Tyr
- TOPMed rs1204792059
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.20
- CADD 11.80
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available