G49E (p.Gly49Glu) variant of COL4A4 (Collagen alpha-4(IV) chain)
G49E (p.Gly49Glu) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
G49E (p.Gly49Glu) variant details
- p.Gly49Glu
- NCI-TCGA Cosmic COSV6162
- TOPMed rs2063104903
- gnomAD rs2063104903
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.613
- REVEL 0.58
- CADD 24.20
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available