H56P (p.His56Pro) variant of PHF6 (PHD finger protein 6)
H56P (p.His56Pro) in PHF6 (PHD finger protein 6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
H56P (p.His56Pro) variant details
- p.His56Pro
- TOPMed rs1418409325
- gnomAD rs1418409325
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.10
- CADD 20.50
- PolyPhen-2 0.00
- SIFT 0.40
- Most common in the Latino/Admixed American population (allele frequency 9.7e-05)
- Structural context available