D25G (p.Asp25Gly) variant of CHAMP1 (Q96JM3)
D25G (p.Asp25Gly) in CHAMP1 (Q96JM3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
D25G (p.Asp25Gly) variant details
- p.Asp25Gly
- ExAC rs782620299
- gnomAD rs782620299
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- REVEL 0.29
- ESM-1b 1.00
- AlphaMissense 0.69
- MetaLR 0.02
- MetaSVM -0.79
- CADD 26.80
- Most common in the Amish population (allele frequency 1)
- Structural context available