G717S (p.Gly717Ser) variant of COL2A1 (Collagen alpha-1(II) chain)
G717S (p.Gly717Ser) 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 Avascular necrosis of femoral head, primary, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
G717S (p.Gly717Ser) variant details
- p.Gly717Ser
- rs387906558
- ClinGen CA127174
- ClinVar RCV000018937
- UniProt VAR 023929
- Pathogenic
- Avascular necrosis of femoral head, primary, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.973
- AlphaMissense 0.95
- MetaLR 0.99
- MetaSVM 0.96
- PolyPhen-2 1.00
- SIFT 0.04
- EVE 0.94
- ClinVar: Pathogenic (Avascular necrosis of femoral head, primary, 1)
- EBI: Pathogenic (in ANFH1)
- UniProt: Pathogenic (in ANFH1)
- Structural context available
- Cited in: Type II collagen gene variants and inherited osteonecrosis of the femoral head. (PMID 15930420)
- Cited in: Type II Collagen Disorders Overview. (PMID 31021589)