G1337E (p.Gly1337Glu) variant of COL4A3 (Collagen alpha-3(IV) chain)
G1337E (p.Gly1337Glu) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Alport syndrome 3b, autosomal recessive; Alport syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
G1337E (p.Gly1337Glu) variant details
- p.Gly1337Glu
- rs779855573
- ClinGen CA2147422
- ClinVar RCV000681686
- ClinVar RCV005860127
- Likely pathogenic
- Alport syndrome 3b, autosomal recessive; Alport syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.918
- REVEL 0.99
- MetaLR 0.99
- MetaSVM 0.97
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Likely pathogenic (Alport syndrome 3b, autosomal recessive; Alport syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)