L80M (p.Leu80Met) variant of PHF6 (PHD finger protein 6)
L80M (p.Leu80Met) in PHF6 (PHD finger protein 6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
L80M (p.Leu80Met) variant details
- p.Leu80Met
- gnomAD X-134378104-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.39
- CADD 23.50
- PolyPhen-2 0.79
- SIFT 0.26
- Population evidence available
- Structural context available
- Literature evidence available