E25K (p.Glu25Lys) variant of COL1A1 (Collagen alpha-1(I) chain)
E25K (p.Glu25Lys) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. Clinical records from ClinVar, EBI, 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 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
E25K (p.Glu25Lys) variant details
- p.Glu25Lys
- rs2509266699
- ClinGen CA400230233
- ClinVar RCV002603198
- Uncertain significance
- Osteogenesis imperfecta type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.26
- ESM-1b 1.00
- AlphaMissense 0.10
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.14
- ClinVar: Uncertain significance (Osteogenesis imperfecta type I)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)