F47F (p.Phe47Phe) variant of CHD7 (Q9P2D1)
F47F (p.Phe47Phe) 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.
F47F (p.Phe47Phe) variant details
- p.Phe47Phe
- rs2150577522
- gnomAD 8-60741573-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.266
- CADD 10.20
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available