G65V (p.Gly65Val) variant of COL4A4 (Collagen alpha-4(IV) chain)
G65V (p.Gly65Val) 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; Hematuria, benign familial. The record also includes variant effect predictions and structural context.
G65V (p.Gly65Val) variant details
- p.Gly65Val
- ExAC rs771517961
- gnomAD rs771517961
- Likely pathogenic
- Alport syndrome; Autosomal recessive Alport syndrome; Hematuria, benign familial
- Missense
- MetaLR 0.99
- MetaSVM 1.01
- SIFT 0.00
- ClinVar: Likely pathogenic (Alport syndrome; Autosomal recessive Alport syndrome; Hematuria,)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available