G132R (p.Gly132Arg) variant of COL11A1 (Collagen alpha-1(XI) chain)
G132R (p.Gly132Arg) in COL11A1 (Collagen alpha-1(XI) chain) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data and structural context.
G132R (p.Gly132Arg) variant details
- p.Gly132Arg
- rs749430584
- ExAC rs749430584
- gnomAD rs749430584
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.892
- REVEL 0.93
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 27.60
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available