S22* (p.Ser22Ter) variant of PHF6 (PHD finger protein 6)
S22* (p.Ser22Ter) in PHF6 (PHD finger protein 6) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
S22* (p.Ser22Ter) variant details
- p.Ser22Ter
- rs1569334260
- ClinGen CA414710724
- ClinVar RCV000761327
- Ensembl rs1569334260
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.773
- CADD 35.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available