F95S (p.Phe95Ser) variant of COL11A1 (Collagen alpha-1(XI) chain)
F95S (p.Phe95Ser) 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 0.51 / 1. The record also includes structural context.
F95S (p.Phe95Ser) variant details
- p.Phe95Ser
- rs2102303811
- ClinGen CA341168074
- ClinVar RCV001885614
- Ensembl rs2102303811
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- ESM-1b 1.00
- AlphaMissense 0.96
- MetaLR 0.03
- MetaSVM -1.11
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available