F26S (p.Phe26Ser) variant of COL11A1 (Collagen alpha-1(XI) chain)
F26S (p.Phe26Ser) 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 0.25 / 1. The record also includes structural context.
F26S (p.Phe26Ser) variant details
- p.Phe26Ser
- rs2526512469
- ClinGen CA341159342
- ClinVar RCV003661995
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- ESM-1b 0.00
- AlphaMissense 0.25
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available