K8R (p.Lys8Arg) variant of PHF6 (PHD finger protein 6)
K8R (p.Lys8Arg) in PHF6 (PHD finger protein 6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
K8R (p.Lys8Arg) variant details
- p.Lys8Arg
- gnomAD X-134377640-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.27
- CADD 20.70
- PolyPhen-2 0.01
- SIFT 0.32
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available