E60* (p.Glu60Ter) variant of PHF6 (PHD finger protein 6)
E60* (p.Glu60Ter) in PHF6 (PHD finger protein 6) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
E60* (p.Glu60Ter) variant details
- p.Glu60Ter
- gnomAD X-134378044-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.777
- CADD 36.00
- Most common in the South Asian population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available