L47L (p.Leu47Leu) variant of PHF6 (PHD finger protein 6)
L47L (p.Leu47Leu) in PHF6 (PHD finger protein 6) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
L47L (p.Leu47Leu) variant details
- p.Leu47Leu
- gnomAD X-134378007-C-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.124
- CADD 6.16
- Population evidence available
- Structural context available
- Literature evidence available