T72I (p.Thr72Ile) variant of COL11A1 (Collagen alpha-1(XI) chain)
T72I (p.Thr72Ile) 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 0.20 / 1. The record also includes population frequency data and structural context.
T72I (p.Thr72Ile) variant details
- p.Thr72Ile
- rs56230601
- ClinGen CA341168597
- ClinVar RCV003698428
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.205
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 15.90
- PolyPhen-2 0.00
- SIFT 0.45
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available