T126I (p.Thr126Ile) variant of COMP (P49747)
T126I (p.Thr126Ile) in COMP (P49747) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome; Multi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
T126I (p.Thr126Ile) variant details
- p.Thr126Ile
- rs886054305
- ClinGen CA10642490
- ClinVar RCV000290716
- ClinVar RCV000385033
- Uncertain significance
- not provided; Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome; Multi
- Missense
- Variant Prioritization Score for Impact Estimate 0.163
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 20.80
- PolyPhen-2 0.01
- SIFT 0.17
- ClinVar: Uncertain significance (not provided; Pseudoachondroplastic spondyloepiphyseal dysplasia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Multiple Epiphyseal Dysplasia, Autosomal Dominant. (PMID 20301302)
- Cited in: COMP-Related Pseudoachondroplasia. (PMID 20301660)