G451S (p.Gly451Ser) variant of COL4A4 (Collagen alpha-4(IV) chain)
G451S (p.Gly451Ser) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autosomal recessive Alport syndrome; Hematuria, benign familial, 1; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data and structural context.
G451S (p.Gly451Ser) variant details
- p.Gly451Ser
- gnomAD rs1381210450
- Likely pathogenic
- Autosomal recessive Alport syndrome; Hematuria, benign familial, 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.913
- REVEL 0.98
- MetaLR 0.99
- MetaSVM 1.03
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Likely pathogenic (Autosomal recessive Alport syndrome; Hematuria, benign familial,)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available