T94I (p.Thr94Ile) variant of COL11A1 (Collagen alpha-1(XI) chain)
T94I (p.Thr94Ile) in COL11A1 (Collagen alpha-1(XI) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of COL11A1-related disorder; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
T94I (p.Thr94Ile) variant details
- p.Thr94Ile
- rs1283924469
- ClinGen CA341168079
- ClinVar RCV001249437
- ClinVar RCV001587283
- Conflicting interpretations
- COL11A1-related disorder; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.169
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 12.50
- PolyPhen-2 0.00
- SIFT 0.19
- ClinVar: Conflicting classifications of pathogenicity (COL11A1-related disorder; not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available
- Cited in: Stickler Syndrome. (PMID 20301479)