P52P (p.Pro52Pro) variant of CHD7 (Q9P2D1)
P52P (p.Pro52Pro) in CHD7 (Q9P2D1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
P52P (p.Pro52Pro) variant details
- p.Pro52Pro
- rs398124315
- gnomAD 8-60741588-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0902
- CADD 1.35
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: Free the data: one laboratory's approach to knowledge-based genomic variant classification and preparation for EMR… (PMID 23757202)