G80E (p.Gly80Glu) variant of COL4A4 (Collagen alpha-4(IV) chain)
G80E (p.Gly80Glu) 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 0.96 / 1. The record also includes structural context.
G80E (p.Gly80Glu) variant details
- p.Gly80Glu
- rs1463746360
- NCI-TCGA Cosmic COSV6163
- gnomAD rs1463746360
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.961
- AlphaMissense 0.87
- MetaLR 0.99
- MetaSVM 1.01
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.97
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available