L47I (p.Leu47Ile) variant of PHF6 (PHD finger protein 6)
L47I (p.Leu47Ile) in PHF6 (PHD finger protein 6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
L47I (p.Leu47Ile) variant details
- p.Leu47Ile
- gnomAD X-134378005-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- REVEL 0.46
- CADD 24.10
- PolyPhen-2 0.78
- SIFT 0.21
- Population evidence available
- Structural context available
- Literature evidence available