E102E (p.Glu102Glu) variant of CHAMP1 (Q96JM3)
E102E (p.Glu102Glu) in CHAMP1 (Q96JM3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
E102E (p.Glu102Glu) variant details
- p.Glu102Glu
- rs782242424
- gnomAD 13-114324148-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.129
- CADD 6.86
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available