E91K (p.Glu91Lys) variant of COL5A2 (Collagen alpha-2(V) chain)
E91K (p.Glu91Lys) in COL5A2 (Collagen alpha-2(V) chain) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Ehlers-Danlos syndrome, classic type, 1. The record also includes structural context.
E91K (p.Glu91Lys) variant details
- p.Glu91Lys
- NCI-TCGA Cosmic COSV1008
- Uncertain significance
- Ehlers-Danlos syndrome, classic type, 1
- Missense
- ClinVar: Uncertain significance (Ehlers-Danlos syndrome, classic type, 1)
- UniProt: Uncertain significance
- Structural context available