G163S (p.Gly163Ser) variant of COL1A2 (Collagen alpha-2(I) chain)
G163S (p.Gly163Ser) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Ehlers-Danlos syndrome, classic type, 1; Osteogenesis imperfecta t. 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.
G163S (p.Gly163Ser) variant details
- p.Gly163Ser
- cosmic curated COSV10812
- Ensembl rs1562899297
- Conflicting interpretations
- not provided; Ehlers-Danlos syndrome, classic type, 1; Osteogenesis imperfecta t
- Missense
- Variant Prioritization Score for Impact Estimate 0.918
- REVEL 0.97
- CADD 34.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Ehlers-Danlos syndrome, classic type, 1; Osteogene)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available