E6E (p.Glu6Glu) variant of PHF6 (PHD finger protein 6)
E6E (p.Glu6Glu) in PHF6 (PHD finger protein 6) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
E6E (p.Glu6Glu) variant details
- p.Glu6Glu
- gnomAD X-134377635-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.326
- CADD 12.10
- Most common in the East Asian population (allele frequency 3.3e-05)
- Structural context available
- Literature evidence available