p.Phe54 Tyr56del variant of ABCC1 (P33527)
p.Phe54 Tyr56del in ABCC1 (P33527) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
p.Phe54 Tyr56del variant details
- gnomAD 16-16007921-TTCTA
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.346
- CADD 19.40
- Population evidence available
- Structural context available
- Literature evidence available