K8K (p.Lys8Lys) variant of PHF6 (PHD finger protein 6)
K8K (p.Lys8Lys) in PHF6 (PHD finger protein 6) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
K8K (p.Lys8Lys) variant details
- p.Lys8Lys
- rs769068524
- gnomAD X-134377641-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.332
- CADD 12.50
- Most common in the Non-Finnish European population (allele frequency 5.6e-05)
- Structural context available
- Literature evidence available