G732S (p.Gly732Ser) variant of COL2A1 (Collagen alpha-1(II) chain)
G732S (p.Gly732Ser) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Achondrogenesis type II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data and structural context.
G732S (p.Gly732Ser) variant details
- p.Gly732Ser
- gnomAD rs1221069783
- Pathogenic
- not provided; Achondrogenesis type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.923
- REVEL 0.95
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.97
- CADD 31.00
- PolyPhen-2 0.98
- ClinVar: Pathogenic (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available