Q7R (p.Gln7Arg) variant of PHF6 (PHD finger protein 6)
Q7R (p.Gln7Arg) in PHF6 (PHD finger protein 6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
Q7R (p.Gln7Arg) variant details
- p.Gln7Arg
- gnomAD X-134377637-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- REVEL 0.53
- CADD 23.30
- PolyPhen-2 0.90
- SIFT 0.31
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available