T62I (p.Thr62Ile) variant of COL11A1 (Collagen alpha-1(XI) chain)
T62I (p.Thr62Ile) 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 0.36 / 1. The record also includes population frequency data and structural context.
T62I (p.Thr62Ile) variant details
- p.Thr62Ile
- rs746264058
- ClinGen CA341168709
- ClinVar RCV003681955
- ExAC rs746264058
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.22
- ESM-1b 0.06
- AlphaMissense 0.11
- CADD 22.80
- PolyPhen-2 0.08
- SIFT 0.12
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available