C19C (p.Cys19Cys) variant of CHAMP1 (Q96JM3)
C19C (p.Cys19Cys) in CHAMP1 (Q96JM3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
C19C (p.Cys19Cys) variant details
- p.Cys19Cys
- gnomAD 13-114323899-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.225
- CADD 9.30
- Population evidence available
- Structural context available
- Literature evidence available