K67R (p.Lys67Arg) variant of COL1A1 (Collagen alpha-1(I) chain)
K67R (p.Lys67Arg) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Osteogenesis imperfecta type I; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
K67R (p.Lys67Arg) variant details
- p.Lys67Arg
- rs758395597
- ClinGen CA8645810
- ClinVar RCV003518038
- ClinVar RCV004723355
- Conflicting interpretations
- Osteogenesis imperfecta type I; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.159
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 22.40
- PolyPhen-2 0.01
- SIFT 0.21
- ClinVar: Conflicting classifications of pathogenicity (Osteogenesis imperfecta type I; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)