G1264V (p.Gly1264Val) variant of COL4A4 (Collagen alpha-4(IV) chain)
G1264V (p.Gly1264Val) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Alport syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data and structural context.
G1264V (p.Gly1264Val) variant details
- p.Gly1264Val
- rs371915593
- ClinGen CA2144421
- ClinVar RCV004532004
- ClinVar RCV004723536
- Pathogenic/Likely pathogenic
- Alport syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.924
- REVEL 0.97
- MetaLR 0.99
- MetaSVM 1.01
- CADD 29.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Alport syndrome; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available