F60C (p.Phe60Cys) variant of COL11A1 (Collagen alpha-1(XI) chain)
F60C (p.Phe60Cys) in COL11A1 (Collagen alpha-1(XI) 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 0.49 / 1. The record also includes structural context.
F60C (p.Phe60Cys) variant details
- p.Phe60Cys
- rs948856403
- ClinGen CA27756346
- ClinVar RCV003691305
- Ensembl rs948856403
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- ESM-1b 1.00
- AlphaMissense 0.85
- MetaLR 0.02
- MetaSVM -1.14
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available