R11E (p.Arg11Glu) variant of CLCN5 (P51795)
R11E (p.Arg11Glu) in CLCN5 (P51795) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
R11E (p.Arg11Glu) variant details
- p.Arg11Glu
- gnomAD X-50042329-CA-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.3
- CADD 24.70
- Population evidence available
- Structural context available
- Literature evidence available