C85S (p.Cys85Ser) variant of PHF6 (PHD finger protein 6)
C85S (p.Cys85Ser) in PHF6 (PHD finger protein 6) is a protein-truncating 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.
C85S (p.Cys85Ser) variant details
- p.Cys85Ser
- gnomAD X-134377755-G-GCT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.717
- CADD 28.00
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available