G307D (p.Gly307Asp) variant of COL4A5 (Collagen alpha-5(IV) chain)
G307D (p.Gly307Asp) in COL4A5 (Collagen alpha-5(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of COL4A5-related disorder; not provided; X-linked Alport syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
G307D (p.Gly307Asp) variant details
- p.Gly307Asp
- rs104886082
- ClinGen CA258356
- NCI-TCGA Cosmic COSV6036
- cosmic curated COSV60360
- Pathogenic/Likely pathogenic
- COL4A5-related disorder; not provided; X-linked Alport syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.984
- AlphaMissense 0.98
- MetaLR 0.99
- MetaSVM 0.95
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.99
- ClinVar: Pathogenic/Likely pathogenic (COL4A5-related disorder; not provided; X-linked Alport syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)