F10L (p.Phe10Leu) variant of CHD7 (Q9P2D1)
F10L (p.Phe10Leu) in CHD7 (Q9P2D1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
F10L (p.Phe10Leu) variant details
- p.Phe10Leu
- gnomAD 8-60741457-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.769
- CADD 26.10
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- CHD7 BRK domain domainome 1.0: score -0.989
- Literature evidence available