G370R (p.Gly370Arg) variant of COL4A4 (Collagen alpha-4(IV) chain)
G370R (p.Gly370Arg) 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 Alport syndrome; Autosomal recessive Alport syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
G370R (p.Gly370Arg) variant details
- p.Gly370Arg
- rs1559617617
- ClinGen CA350854336
- ClinVar RCV000681778
- ClinVar RCV004788110
- Likely pathogenic
- Alport syndrome; Autosomal recessive Alport syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.812
- REVEL 0.81
- MetaLR 0.97
- MetaSVM 1.08
- CADD 23.10
- PolyPhen-2 0.31
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available