T9R (p.Thr9Arg) variant of COL2A1 (Collagen alpha-1(II) chain)
T9R (p.Thr9Arg) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Stickler syndrome type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
T9R (p.Thr9Arg) variant details
- p.Thr9Arg
- rs557946588
- ClinVar RCV004577117
- 1000Genomes rs557946588
- TOPMed rs557946588
- Uncertain significance
- Stickler syndrome type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- REVEL 0.46
- CADD 20.30
- PolyPhen-2 0.03
- SIFT 0.10
- ClinVar: Uncertain significance (Stickler syndrome type 1)
- EBI: Variant of uncertain significance (in dbSNP:rs3803183)
- UniProt: Uncertain significance (in dbSNP:rs3803183)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Stickler Syndrome. (PMID 20301479)
- Cited in: Evaluation of the adolescent or adult with some features of Marfan syndrome. (PMID 22237449)