D25E (p.Asp25Glu) variant of CHAMP1 (Q96JM3)
D25E (p.Asp25Glu) in CHAMP1 (Q96JM3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
D25E (p.Asp25Glu) variant details
- p.Asp25Glu
- gnomAD rs1555379328
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.21
- ESM-1b 0.11
- AlphaMissense 0.68
- MetaLR 0.01
- MetaSVM -1.06
- CADD 21.80
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available