G609V (p.Gly609Val) variant of COL2A1 (Collagen alpha-1(II) chain)
G609V (p.Gly609Val) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Stickler syndrome type 1; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
G609V (p.Gly609Val) variant details
- p.Gly609Val
- rs140580674
- ClinGen CA384550472
- ClinVar RCV001564048
- ClinVar RCV001865988
- Likely pathogenic
- Stickler syndrome type 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.929
- AlphaMissense 0.91
- MetaLR 0.89
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.95
- ClinVar: Likely pathogenic (Stickler syndrome type 1; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)