E15E (p.Glu15Glu) variant of CHAMP1 (Q96JM3)
E15E (p.Glu15Glu) in CHAMP1 (Q96JM3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
E15E (p.Glu15Glu) variant details
- p.Glu15Glu
- rs201860837
- gnomAD 13-114323887-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.553
- CADD 7.81
- Population evidence available
- Structural context available
- Literature evidence available