E6G (p.Glu6Gly) variant of CHAMP1 (Q96JM3)
E6G (p.Glu6Gly) in CHAMP1 (Q96JM3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
E6G (p.Glu6Gly) variant details
- p.Glu6Gly
- 1000Genomes rs201032426
- gnomAD rs201032426
- Missense
- Variant Prioritization Score for Impact Estimate 0.232
- REVEL 0.11
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.01
- MetaSVM -0.87
- CADD 22.40
- Most common in the Ashkenazi Jewish population (allele frequency 0.024)
- Structural context available