G901E (p.Gly901Glu) variant of COL11A1 (Collagen alpha-1(XI) chain)
G901E (p.Gly901Glu) in COL11A1 (Collagen alpha-1(XI) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Marshall syndrome; Stickler syndrome type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes published literature and structural context.
G901E (p.Gly901Glu) variant details
- p.Gly901Glu
- rs2525109250
- ClinGen CA341163198
- ClinVar RCV003988754
- ClinVar RCV004787086
- Likely pathogenic
- Marshall syndrome; Stickler syndrome type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.999
- ESM-1b 1.00
- AlphaMissense 1.00
- ClinVar: Likely pathogenic (Marshall syndrome; Stickler syndrome type 2)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Stickler Syndrome. (PMID 20301479)