E27E (p.Glu27Glu) variant of CHAMP1 (Q96JM3)
E27E (p.Glu27Glu) in CHAMP1 (Q96JM3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
E27E (p.Glu27Glu) variant details
- p.Glu27Glu
- rs146349096
- gnomAD 13-114323923-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.475
- CADD 9.96
- Most common in the HGDP:JAPANESE population (allele frequency 0.018)
- Structural context available
- Literature evidence available