Q7E (p.Gln7Glu) variant of PHF6 (PHD finger protein 6)
Q7E (p.Gln7Glu) in PHF6 (PHD finger protein 6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
Q7E (p.Gln7Glu) variant details
- p.Gln7Glu
- gnomAD X-134377636-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.548
- REVEL 0.43
- CADD 24.00
- PolyPhen-2 0.86
- SIFT 0.05
- Most common in the East Asian population (allele frequency 3.3e-05)
- Structural context available
- Literature evidence available