I54F (p.Ile54Phe) variant of COL2A1 (Collagen alpha-1(II) chain)
I54F (p.Ile54Phe) 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 0.39 / 1. The record also includes structural context.
I54F (p.Ile54Phe) variant details
- p.Ile54Phe
- rs1940157670
- ClinGen CA384526447
- ClinVar RCV002259488
- TOPMed rs1940157670
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- AlphaMissense 0.28
- MetaLR 0.27
- MetaSVM -0.63
- PolyPhen-2 0.00
- SIFT 0.10
- MutPred 0.55
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available