G242E (p.Gly242Glu) variant of COL4A3 (Collagen alpha-3(IV) chain)
G242E (p.Gly242Glu) in COL4A3 (Collagen alpha-3(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 dominant Alport syndrome; Hematuria, benign familial, 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
G242E (p.Gly242Glu) variant details
- p.Gly242Glu
- rs1574699806
- ClinGen CA350865022
- ClinVar RCV000787009
- ClinVar RCV001281283
- Pathogenic/Likely pathogenic
- not provided; Autosomal dominant Alport syndrome; Hematuria, benign familial, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.801
- REVEL 0.75
- MetaLR 0.95
- MetaSVM 1.08
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.08
- ClinVar: Pathogenic/Likely pathogenic (not provided; Autosomal dominant Alport syndrome; Hematuria, ben)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)