E28E (p.Glu28Glu) variant of CLCN5 (P51795)
E28E (p.Glu28Glu) in CLCN5 (P51795) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
E28E (p.Glu28Glu) variant details
- p.Glu28Glu
- gnomAD X-50042383-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.21
- CADD 9.03
- Population evidence available
- Structural context available
- Literature evidence available