G743S (p.Gly743Ser) variant of COL4A5 (Collagen alpha-5(IV) chain)
G743S (p.Gly743Ser) in COL4A5 (Collagen alpha-5(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; X-linked Alport syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data and structural context.
G743S (p.Gly743Ser) variant details
- p.Gly743Ser
- rs749817240
- ClinGen CA10488871
- cosmic curated COSV10440
- ClinVar RCV002015233
- Likely pathogenic
- not provided; X-linked Alport syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.889
- REVEL 0.99
- MetaLR 0.99
- MetaSVM 0.94
- CADD 24.30
- PolyPhen-2 1.00
- SIFT 0.07
- ClinVar: Likely pathogenic (not provided; X-linked Alport syndrome)
- EBI: Likely pathogenic (in ATS1)
- UniProt: Likely pathogenic (in ATS1)
- Most common in the Latino/Admixed American population (allele frequency 3e-05)
- Structural context available