N42K (p.Asn42Lys) variant of COL2A1 (Collagen alpha-1(II) chain)
N42K (p.Asn42Lys) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes structural context.
N42K (p.Asn42Lys) variant details
- p.Asn42Lys
- rs1940160586
- ClinGen CA384526623
- ClinVar RCV003852842
- TOPMed rs1940160586
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- AlphaMissense 0.13
- MetaLR 0.13
- MetaSVM -1.03
- PolyPhen-2 0.02
- SIFT 0.30
- MutPred 0.49
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available