F29L (p.Phe29Leu) variant of ABCC1 (P33527)
F29L (p.Phe29Leu) in ABCC1 (P33527) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
F29L (p.Phe29Leu) variant details
- p.Phe29Leu
- gnomAD 16-16007848-C-CGA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.307
- CADD 32.00
- Population evidence available
- Structural context available
- Literature evidence available