E68G (p.Glu68Gly) variant of PHF6 (PHD finger protein 6)
E68G (p.Glu68Gly) in PHF6 (PHD finger protein 6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
E68G (p.Glu68Gly) variant details
- p.Glu68Gly
- gnomAD X-134378069-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.658
- REVEL 0.72
- CADD 26.60
- PolyPhen-2 0.95
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available