S55L (p.Ser55Leu) variant of PHF6 (PHD finger protein 6)
S55L (p.Ser55Leu) in PHF6 (PHD finger protein 6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
S55L (p.Ser55Leu) variant details
- p.Ser55Leu
- gnomAD X-134378030-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- REVEL 0.39
- CADD 27.30
- PolyPhen-2 0.95
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available