Y27H (p.Tyr27His) variant of ABCD1 (P33897)
Y27H (p.Tyr27His) in ABCD1 (P33897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
Y27H (p.Tyr27His) variant details
- p.Tyr27His
- gnomAD X-153725345-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.635
- REVEL 0.69
- CADD 24.90
- PolyPhen-2 0.90
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available