G75V (p.Gly75Val) variant of COL4A5 (Collagen alpha-5(IV) chain)
G75V (p.Gly75Val) 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 not provided. The record also includes structural context.
G75V (p.Gly75Val) variant details
- p.Gly75Val
- rs2524162968
- ClinGen CA413914897
- ClinVar RCV003567318
- Likely pathogenic
- not provided
- Missense
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available