L23V (p.Leu23Val) variant of COL5A1 (Collagen alpha-1(V) chain)
L23V (p.Leu23Val) in COL5A1 (Collagen alpha-1(V) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Ehlers-Danlos syndrome, classic type, 1. The record also includes published literature and structural context.
L23V (p.Leu23Val) variant details
- p.Leu23Val
- rs2491093987
- ClinGen CA375443932
- ClinVar RCV002290124
- Likely benign
- Ehlers-Danlos syndrome, classic type, 1
- Missense
- ClinVar: Likely benign (Ehlers-Danlos syndrome, classic type, 1)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)