H56Y (p.His56Tyr) variant of CHD7 (Q9P2D1)
H56Y (p.His56Tyr) in CHD7 (Q9P2D1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
H56Y (p.His56Tyr) variant details
- p.His56Tyr
- TOPMed rs1809017261
- gnomAD rs1809017261
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.14
- MetaLR 0.10
- MetaSVM -0.91
- CADD 22.60
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available