G621S (p.Gly621Ser) variant of COL4A5 (Collagen alpha-5(IV) chain)
G621S (p.Gly621Ser) 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 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.
G621S (p.Gly621Ser) variant details
- p.Gly621Ser
- rs104886141
- ClinGen CA334038941
- ClinVar RCV001551977
- Ensembl rs104886141
- Pathogenic/Likely pathogenic
- not provided; X-linked Alport syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.897
- REVEL 0.97
- AlphaMissense 0.90
- MetaLR 0.99
- MetaSVM 0.97
- CADD 27.20
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; X-linked Alport syndrome)
- EBI: Pathogenic (in ATS1)
- UniProt: Pathogenic (in ATS1)
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available