P91R (p.Pro91Arg) variant of COL11A1 (Collagen alpha-1(XI) chain)
P91R (p.Pro91Arg) 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 0.47 / 1. The record also includes structural context.
P91R (p.Pro91Arg) variant details
- p.Pro91Arg
- rs1672517531
- ClinGen CA341168437
- ClinVar RCV001763117
- TOPMed rs1672517531
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- ESM-1b 1.00
- AlphaMissense 0.11
- MetaLR 0.01
- MetaSVM -1.07
- PolyPhen-2 0.75
- SIFT 0.05
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available