G1322S (p.Gly1322Ser) variant of COL4A3 (Collagen alpha-3(IV) chain)
G1322S (p.Gly1322Ser) 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 Autosomal dominant Alport syndrome; Benign familial hematuria; Autosomal recessi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
G1322S (p.Gly1322Ser) variant details
- p.Gly1322Ser
- rs759739044
- ClinGen CA236124
- ClinVar RCV000171335
- ClinVar RCV002485088
- Likely pathogenic
- Autosomal dominant Alport syndrome; Benign familial hematuria; Autosomal recessi
- Missense
- Variant Prioritization Score for Impact Estimate 0.899
- AlphaMissense 0.59
- MetaLR 0.99
- MetaSVM 1.01
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.96
- ClinVar: Likely pathogenic (Autosomal dominant Alport syndrome; Benign familial hematuria; A)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)