A12G (p.Ala12Gly) variant of CHAMP1 (Q96JM3)
A12G (p.Ala12Gly) in CHAMP1 (Q96JM3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
A12G (p.Ala12Gly) variant details
- p.Ala12Gly
- ExAC rs781801530
- TOPMed rs781801530
- gnomAD rs781801530
- Missense
- Variant Prioritization Score for Impact Estimate 0.129
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.00
- MetaSVM -0.90
- CADD 11.40
- Most common in the Amish population (allele frequency 1)
- Structural context available