G92E (p.Gly92Glu) variant of COL4A4 (Collagen alpha-4(IV) chain)
G92E (p.Gly92Glu) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes structural context.
G92E (p.Gly92Glu) variant details
- p.Gly92Glu
- rs2125036772
- ClinGen CA350863320
- ClinVar RCV001371506
- Ensembl rs2125036772
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.969
- AlphaMissense 0.90
- MetaLR 0.99
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.97
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available