C28Y (p.Cys28Tyr) variant of PHF6 (PHD finger protein 6)
C28Y (p.Cys28Tyr) in PHF6 (PHD finger protein 6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
C28Y (p.Cys28Tyr) variant details
- p.Cys28Tyr
- TOPMed rs1390727815
- gnomAD rs1390727815
- Missense
- Variant Prioritization Score for Impact Estimate 0.591
- REVEL 0.51
- CADD 24.30
- PolyPhen-2 0.98
- SIFT 0.18
- Most common in the African/African-American population (allele frequency 3.3e-05)
- Structural context available