G64E (p.Gly64Glu) variant of PHF6 (PHD finger protein 6)
G64E (p.Gly64Glu) in PHF6 (PHD finger protein 6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
G64E (p.Gly64Glu) variant details
- p.Gly64Glu
- gnomAD X-134378057-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.72
- REVEL 0.72
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available