K67N (p.Lys67Asn) variant of COL1A1 (Collagen alpha-1(I) chain)
K67N (p.Lys67Asn) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
K67N (p.Lys67Asn) variant details
- p.Lys67Asn
- ExAC rs750319767
- TOPMed rs750319767
- gnomAD rs750319767
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.14
- REVEL 0.11
- ESM-1b 0.00
- AlphaMissense 0.16
- CADD 13.40
- PolyPhen-2 0.00
- SIFT 0.60
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available