G411R (p.Gly411Arg) variant of COL2A1 (Collagen alpha-1(II) chain)
G411R (p.Gly411Arg) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes structural context.
G411R (p.Gly411Arg) variant details
- p.Gly411Arg
- rs2136577175
- ClinGen CA384554257
- ClinVar RCV001971550
- Ensembl rs2136577175
- Likely pathogenic
- Stickler syndrome type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.98
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.96
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.96
- ClinVar: Likely pathogenic (Stickler syndrome type 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available