G46R (p.Gly46Arg) variant of CHD7 (Q9P2D1)
G46R (p.Gly46Arg) in CHD7 (Q9P2D1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
G46R (p.Gly46Arg) variant details
- p.Gly46Arg
- NCI-TCGA TCGA novel
- ExAC rs758174511
- TOPMed rs758174511
- gnomAD rs758174511
- Variant assessed as somatic; high impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.14
- MetaLR 0.11
- MetaSVM -1.00
- CADD 22.70
- PolyPhen-2 0.35
- SIFT 0.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available