L80P (p.Leu80Pro) variant of PHF6 (PHD finger protein 6)
L80P (p.Leu80Pro) in PHF6 (PHD finger protein 6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
L80P (p.Leu80Pro) variant details
- p.Leu80Pro
- gnomAD X-134378105-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.755
- REVEL 0.85
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available