A48A (p.Ala48Ala) variant of CHD7 (Q9P2D1)
A48A (p.Ala48Ala) in CHD7 (Q9P2D1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
A48A (p.Ala48Ala) variant details
- p.Ala48Ala
- rs1809015016
- gnomAD 8-60741576-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.27
- CADD 10.10
- Population evidence available
- Structural context available
- Literature evidence available