P107S (p.Pro107Ser) variant of COL11A1 (Collagen alpha-1(XI) chain)
P107S (p.Pro107Ser) 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 0.49 / 1. The record also includes population frequency data and structural context.
P107S (p.Pro107Ser) variant details
- p.Pro107Ser
- rs1298293526
- ClinGen CA341167994
- ClinVar RCV001887974
- gnomAD rs1298293526
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.22
- ESM-1b 1.00
- AlphaMissense 0.41
- CADD 23.50
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available