G328S (p.Gly328Ser) variant of COL4A5 (Collagen alpha-5(IV) chain)
G328S (p.Gly328Ser) in COL4A5 (Collagen alpha-5(IV) chain) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic in the context of not provided; X-linked Alport syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data and structural context.
G328S (p.Gly328Ser) variant details
- p.Gly328Ser
- gnomAD rs2066274484
- Pathogenic
- not provided; X-linked Alport syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.903
- REVEL 0.99
- MetaLR 0.99
- MetaSVM 1.01
- CADD 28.40
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic (not provided; X-linked Alport syndrome)
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 9.6e-05)
- Structural context available