G171R (p.Gly171Arg) variant of COL2A1 (Collagen alpha-1(II) chain)
G171R (p.Gly171Arg) 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 Type 2 collagenopathy; Stickler syndrome type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
G171R (p.Gly171Arg) variant details
- p.Gly171Arg
- rs958614345
- ClinGen CA236492735
- cosmic curated COSV61528
- ClinVar RCV001113033
- Uncertain significance
- Type 2 collagenopathy; Stickler syndrome type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.886
- REVEL 0.97
- CADD 23.70
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (Type 2 collagenopathy; Stickler syndrome type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)