I43I (p.Ile43Ile) variant of CHD7 (Q9P2D1)
I43I (p.Ile43Ile) 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.
I43I (p.Ile43Ile) variant details
- p.Ile43Ile
- gnomAD 8-60741561-A-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.143
- CADD 8.83
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available