P51S (p.Pro51Ser) variant of COL11A1 (Collagen alpha-1(XI) chain)
P51S (p.Pro51Ser) 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 0.63 / 1. The record also includes structural context.
P51S (p.Pro51Ser) variant details
- p.Pro51Ser
- rs2526237954
- ClinGen CA341168803
- ClinVar RCV002300430
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.634
- ESM-1b 1.00
- AlphaMissense 0.19
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available