H88N (p.His88Asn) variant of COL6A3 (Collagen alpha-3(VI) chain)
H88N (p.His88Asn) in COL6A3 (Collagen alpha-3(VI) chain) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes structural context.
H88N (p.His88Asn) variant details
- p.His88Asn
- ExAC rs773999183
- TOPMed rs773999183
- gnomAD rs773999183
- Likely benign
- Missense
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available