C75F (p.Cys75Phe) variant of COL2A1 (Collagen alpha-1(II) chain)
C75F (p.Cys75Phe) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes structural context.
C75F (p.Cys75Phe) variant details
- p.Cys75Phe
- rs2136637051
- ClinGen CA384526090
- ClinVar RCV001364844
- Ensembl rs2136637051
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.925
- AlphaMissense 0.96
- MetaLR 0.93
- MetaSVM 1.09
- PolyPhen-2 0.99
- SIFT 0.00
- MutPred 0.77
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available