N65K (p.Asn65Lys) variant of COL1A1 (Collagen alpha-1(I) chain)
N65K (p.Asn65Lys) 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 0.26 / 1. The record also includes published literature and structural context.
N65K (p.Asn65Lys) variant details
- p.Asn65Lys
- rs1907930276
- ClinGen CA400228402
- ClinVar RCV001956036
- Ensembl rs1907930276
- Uncertain significance
- Osteogenesis imperfecta type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- ESM-1b 0.00
- AlphaMissense 0.18
- MutPred 0.35
- ClinVar: Uncertain significance (Osteogenesis imperfecta type I)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)