H68H (p.His68His) variant of CHD7 (Q9P2D1)
H68H (p.His68His) in CHD7 (Q9P2D1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
H68H (p.His68His) variant details
- p.His68His
- rs774568204
- gnomAD 8-60741636-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.136
- CADD 7.77
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available