L52W (p.Leu52Trp) variant of PHF6 (PHD finger protein 6)
L52W (p.Leu52Trp) in PHF6 (PHD finger protein 6) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
L52W (p.Leu52Trp) variant details
- p.Leu52Trp
- gnomAD X-134378018-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.693
- CADD 24.70
- Population evidence available
- Structural context available
- Literature evidence available