S117C (p.Ser117Cys) variant of COL11A1 (Collagen alpha-1(XI) chain)
S117C (p.Ser117Cys) 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 0.82 / 1. The record also includes population frequency data and structural context.
S117C (p.Ser117Cys) variant details
- p.Ser117Cys
- rs143396707
- ClinGen CA975476
- ClinVar RCV001765002
- ESP rs143396707
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.815
- REVEL 0.78
- ESM-1b 1.00
- AlphaMissense 0.89
- CADD 28.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available