G77A (p.Gly77Ala) variant of COL4A4 (Collagen alpha-4(IV) chain)
G77A (p.Gly77Ala) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Benign familial hematuria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
G77A (p.Gly77Ala) variant details
- p.Gly77Ala
- rs112204566
- ClinGen CA350863420
- ClinVar RCV001251515
- Ensembl rs112204566
- Pathogenic
- Benign familial hematuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.795
- REVEL 0.89
- CADD 24.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Benign familial hematuria)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available