Y33C (p.Tyr33Cys) variant of ABCD1 (P33897)
Y33C (p.Tyr33Cys) in ABCD1 (P33897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
Y33C (p.Tyr33Cys) variant details
- p.Tyr33Cys
- gnomAD X-153725364-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- REVEL 0.57
- CADD 22.90
- PolyPhen-2 0.01
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available