Y27C (p.Tyr27Cys) variant of ABCD1 (P33897)
Y27C (p.Tyr27Cys) in ABCD1 (P33897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
Y27C (p.Tyr27Cys) variant details
- p.Tyr27Cys
- gnomAD X-153725346-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.661
- REVEL 0.73
- CADD 25.50
- PolyPhen-2 0.92
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available