G837A (p.Gly837Ala) variant of COL4A4 (Collagen alpha-4(IV) chain)
G837A (p.Gly837Ala) in COL4A4 (Collagen alpha-4(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; Autosomal recessive Alport syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
G837A (p.Gly837Ala) variant details
- p.Gly837Ala
- rs201648982
- ClinGen CA2144796
- ClinVar RCV000669439
- ClinVar RCV001855519
- Pathogenic/Likely pathogenic
- not provided; Autosomal recessive Alport syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.909
- REVEL 0.97
- MetaLR 0.99
- MetaSVM 0.99
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Autosomal recessive Alport syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:JPT population (allele frequency 0.0098)
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)