F17F (p.Phe17Phe) variant of CHD7 (Q9P2D1)
F17F (p.Phe17Phe) in CHD7 (Q9P2D1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
F17F (p.Phe17Phe) variant details
- p.Phe17Phe
- gnomAD 8-60741483-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.497
- CADD 12.10
- Population evidence available
- Structural context available
- CHD7 BRK domain domainome 1.0: score -0.217
- Literature evidence available