G913S (p.Gly913Ser) variant of COL1A2 (Collagen alpha-2(I) chain)
G913S (p.Gly913Ser) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Ehlers-Danlos syndrome; Ehlers-Danlos syndrome, classic type, 1; Osteogenesis im. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes population frequency data, published literature, and structural context.
G913S (p.Gly913Ser) variant details
- p.Gly913Ser
- rs1305819869
- ClinGen CA368224507
- ClinVar RCV002277978
- ClinVar RCV003774904
- Likely pathogenic
- Ehlers-Danlos syndrome; Ehlers-Danlos syndrome, classic type, 1; Osteogenesis im
- Missense
- Variant Prioritization Score for Impact Estimate 0.925
- REVEL 0.99
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Ehlers-Danlos syndrome; Ehlers-Danlos syndrome, classic type, 1;)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Update on the Diagnosis and Management of Inherited Aortopathies, Including Marfan Syndrome. (PMID 28161018)
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)