G801S (p.Gly801Ser) variant of COL2A1 (Collagen alpha-1(II) chain)
G801S (p.Gly801Ser) 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 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
G801S (p.Gly801Ser) variant details
- p.Gly801Ser
- rs2540129721
- ClinGen CA384545420
- ClinVar RCV003328140
- ClinVar RCV005251355
- Pathogenic
- not provided; Achondrogenesis type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.899
- REVEL 0.99
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Type II Collagen Disorders Overview. (PMID 31021589)