P91L (p.Pro91Leu) variant of COL11A1 (Collagen alpha-1(XI) chain)
P91L (p.Pro91Leu) in COL11A1 (Collagen alpha-1(XI) chain) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
P91L (p.Pro91Leu) variant details
- p.Pro91Leu
- TOPMed rs1672517531
- gnomAD rs1672517531
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- REVEL 0.42
- ESM-1b 1.00
- AlphaMissense 0.11
- MetaLR 0.01
- MetaSVM -1.07
- CADD 33.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available