H56H (p.His56His) variant of CHD7 (Q9P2D1)
H56H (p.His56His) in CHD7 (Q9P2D1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
H56H (p.His56His) variant details
- p.His56His
- rs199776087
- gnomAD 8-60741600-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.123
- CADD 5.98
- Most common in the REMAINING population (allele frequency 5e-05)
- Structural context available
- Literature evidence available