G265E (p.Gly265Glu) variant of COL4A3 (Collagen alpha-3(IV) chain)
G265E (p.Gly265Glu) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Autosomal dominant Alport syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes structural context.
G265E (p.Gly265Glu) variant details
- p.Gly265Glu
- rs2069988351
- ClinGen CA350865912
- NCI-TCGA Cosmic COSV6741
- ClinVar RCV002006505
- Likely pathogenic
- not provided; Autosomal dominant Alport syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.856
- AlphaMissense 0.66
- MetaLR 0.97
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.66
- ClinVar: Likely pathogenic (not provided; Autosomal dominant Alport syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available