T18I (p.Thr18Ile) variant of COL11A1 (Collagen alpha-1(XI) chain)
T18I (p.Thr18Ile) 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 0.21 / 1. The record also includes population frequency data and structural context.
T18I (p.Thr18Ile) variant details
- p.Thr18Ile
- rs2102453221
- ClinGen CA341159574
- NCI-TCGA Cosmic COSV6219
- cosmic curated COSV62198
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.14
- CADD 18.90
- PolyPhen-2 0.00
- SIFT 0.46
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available