E6E (p.Glu6Glu) variant of CHAMP1 (Q96JM3)
E6E (p.Glu6Glu) in CHAMP1 (Q96JM3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
E6E (p.Glu6Glu) variant details
- p.Glu6Glu
- gnomAD 13-114323860-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.118
- CADD 5.33
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available