K72R (p.Lys72Arg) variant of PHF6 (PHD finger protein 6)
K72R (p.Lys72Arg) 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 and structural context.
K72R (p.Lys72Arg) variant details
- p.Lys72Arg
- TOPMed rs1382016457
- Missense
- Variant Prioritization Score for Impact Estimate 0.528
- REVEL 0.49
- CADD 25.90
- PolyPhen-2 0.97
- SIFT 0.01
- Population evidence available
- Structural context available