G1357C (p.Gly1357Cys) variant of COL11A1 (Collagen alpha-1(XI) chain)
G1357C (p.Gly1357Cys) in COL11A1 (Collagen alpha-1(XI) chain) is a missense change. Clinical records from ClinVar 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 0.94 / 1. The record also includes population frequency data and structural context.
G1357C (p.Gly1357Cys) variant details
- p.Gly1357Cys
- gnomAD rs1173329613
- Likely pathogenic
- Hearing loss, autosomal dominant 37; Fibrochondrogenesis 1; Stickler syndrome ty
- Missense
- Variant Prioritization Score for Impact Estimate 0.94
- REVEL 0.98
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 0.97
- CADD 31.00
- ClinVar: Likely pathogenic (Hearing loss, autosomal dominant 37; Fibrochondrogenesis 1; Stic)
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available