L80L (p.Leu80Leu) variant of PHF6 (PHD finger protein 6)
L80L (p.Leu80Leu) in PHF6 (PHD finger protein 6) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
L80L (p.Leu80Leu) variant details
- p.Leu80Leu
- gnomAD X-134378104-C-T
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.478
- CADD 16.70
- Population evidence available
- Structural context available
- Literature evidence available