G288S (p.Gly288Ser) variant of COL2A1 (Collagen alpha-1(II) chain)
G288S (p.Gly288Ser) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic in the context of Spondyloepiphyseal dysplasia congenita. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data and structural context.
G288S (p.Gly288Ser) variant details
- p.Gly288Ser
- Ensembl rs374288070
- Pathogenic
- Spondyloepiphyseal dysplasia congenita
- Missense
- Variant Prioritization Score for Impact Estimate 0.906
- REVEL 0.99
- CADD 27.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Spondyloepiphyseal dysplasia congenita)
- UniProt: Pathogenic
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available