Q76H (p.Gln76His) variant of COL4A5 (Collagen alpha-5(IV) chain)
Q76H (p.Gln76His) in COL4A5 (Collagen alpha-5(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of X-linked Alport syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes published literature and structural context.
Q76H (p.Gln76His) variant details
- p.Gln76His
- rs2147722497
- ClinGen CA413914933
- ClinVar RCV001730002
- Ensembl rs2147722497
- Likely pathogenic
- X-linked Alport syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.576
- AlphaMissense 0.18
- MetaLR 0.75
- MetaSVM 0.53
- PolyPhen-2 0.83
- SIFT 0.04
- EVE 0.18
- ClinVar: Likely pathogenic (X-linked Alport syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)