E60Q (p.Glu60Gln) variant of PHF6 (PHD finger protein 6)
E60Q (p.Glu60Gln) in PHF6 (PHD finger protein 6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
E60Q (p.Glu60Gln) variant details
- p.Glu60Gln
- gnomAD X-134378044-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.644
- REVEL 0.59
- CADD 25.80
- PolyPhen-2 0.93
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available