G1396C (p.Gly1396Cys) variant of COL11A1 (Collagen alpha-1(XI) chain)
G1396C (p.Gly1396Cys) 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 Hearing loss, autosomal dominant 37; Fibrochondrogenesis 1; Stickler syndrome ty. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes published literature and structural context.
G1396C (p.Gly1396Cys) variant details
- p.Gly1396Cys
- rs763199410
- ClinGen CA341155366
- cosmic curated COSV10525
- ClinVar RCV001535915
- Likely pathogenic
- Hearing loss, autosomal dominant 37; Fibrochondrogenesis 1; Stickler syndrome ty
- Missense
- Variant Prioritization Score for Impact Estimate 0.989
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.94
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Hearing loss, autosomal dominant 37; Fibrochondrogenesis 1; Stic)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Stickler Syndrome. (PMID 20301479)