K108T (p.Lys108Thr) variant of COL11A1 (Collagen alpha-1(XI) chain)
K108T (p.Lys108Thr) 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 0.47 / 1. The record also includes population frequency data and structural context.
K108T (p.Lys108Thr) variant details
- p.Lys108Thr
- gnomAD rs1173736609
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- REVEL 0.28
- ESM-1b 1.00
- AlphaMissense 0.18
- CADD 26.70
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available