S55del (p.Ser55del) variant of PHF6 (PHD finger protein 6)
S55del (p.Ser55del) in PHF6 (PHD finger protein 6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
S55del (p.Ser55del) variant details
- gnomAD X-134378024-TATC-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.514
- CADD 18.70
- Population evidence available
- Structural context available
- Literature evidence available