E88K (p.Glu88Lys) variant of COL1A1 (Collagen alpha-1(I) chain)
E88K (p.Glu88Lys) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Osteogenesis imperfecta type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes structural context.
E88K (p.Glu88Lys) variant details
- p.Glu88Lys
- NCI-TCGA Cosmic COSV5680
- Uncertain significance
- Osteogenesis imperfecta type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.571
- ESM-1b 0.95
- AlphaMissense 0.08
- ClinVar: Uncertain significance (Osteogenesis imperfecta type I)
- UniProt: Uncertain significance
- Structural context available