I76M (p.Ile76Met) variant of COL4A4 (Collagen alpha-4(IV) chain)
I76M (p.Ile76Met) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Alport syndrome; not provided; Benign familial hematuria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
I76M (p.Ile76Met) variant details
- p.Ile76Met
- rs1393470640
- ClinGen CA350863428
- ClinVar RCV001142918
- ClinVar RCV003238839
- Uncertain significance
- Alport syndrome; not provided; Benign familial hematuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.29
- CADD 20.50
- PolyPhen-2 0.80
- SIFT 0.04
- ClinVar: Uncertain significance (Alport syndrome; not provided; Benign familial hematuria)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)