G47R (p.Gly47Arg) variant of CHAMP1 (Q96JM3)
G47R (p.Gly47Arg) in CHAMP1 (Q96JM3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
G47R (p.Gly47Arg) variant details
- p.Gly47Arg
- TOPMed rs1421565838
- gnomAD rs1421565838
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.24
- ESM-1b 0.24
- AlphaMissense 0.77
- MetaLR 0.02
- MetaSVM -0.81
- CADD 26.10
- Most common in the Non-Finnish European population (allele frequency 0.00046)
- Structural context available