G240R (p.Gly240Arg) variant of COL4A4 (Collagen alpha-4(IV) chain)
G240R (p.Gly240Arg) 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; Benign familial hematuria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
G240R (p.Gly240Arg) variant details
- p.Gly240Arg
- rs2060994526
- ClinGen CA350859241
- ClinVar RCV001280874
- ClinVar RCV006249736
- Likely pathogenic
- Alport syndrome; Autosomal recessive Alport syndrome; Benign familial hematuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.835
- REVEL 0.82
- MetaLR 0.97
- MetaSVM 1.09
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Alport syndrome; Autosomal recessive Alport syndrome; Benign fam)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)