L47F (p.Leu47Phe) variant of PHF6 (PHD finger protein 6)
L47F (p.Leu47Phe) in PHF6 (PHD finger protein 6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
L47F (p.Leu47Phe) variant details
- p.Leu47Phe
- gnomAD X-134378005-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.725
- REVEL 0.71
- CADD 30.00
- PolyPhen-2 1.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available