C87Y (p.Cys87Tyr) variant of PHF6 (PHD finger protein 6)
C87Y (p.Cys87Tyr) in PHF6 (PHD finger protein 6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of PHF6-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
C87Y (p.Cys87Tyr) variant details
- p.Cys87Tyr
- TOPMed rs1002049485
- gnomAD rs1002049485
- Uncertain significance
- PHF6-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.528
- REVEL 0.42
- CADD 23.50
- PolyPhen-2 0.43
- SIFT 0.06
- ClinVar: Uncertain significance (PHF6-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 9.4e-05)
- Structural context available