R40K (p.Arg40Lys) variant of COL2A1 (Collagen alpha-1(II) chain)
R40K (p.Arg40Lys) 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 0.35 / 1. The record also includes structural context.
R40K (p.Arg40Lys) variant details
- p.Arg40Lys
- rs2136637469
- ClinGen CA384526685
- ClinVar RCV001876802
- Ensembl rs2136637469
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- AlphaMissense 0.08
- MetaLR 0.20
- MetaSVM -0.85
- PolyPhen-2 0.03
- SIFT 0.55
- MutPred 0.46
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available