G961V (p.Gly961Val) variant of COL1A2 (Collagen alpha-2(I) chain)
G961V (p.Gly961Val) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. Clinical records from ClinVar and UniProt describe it as conflicting interpretations in the context of Ehlers-Danlos syndrome, classic type, 1; Osteogenesis imperfecta type I; Ehlers. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data and structural context.
G961V (p.Gly961Val) variant details
- p.Gly961Val
- ESP rs140194114
- ExAC rs140194114
- gnomAD rs140194114
- Conflicting interpretations
- Ehlers-Danlos syndrome, classic type, 1; Osteogenesis imperfecta type I; Ehlers
- Missense
- Variant Prioritization Score for Impact Estimate 0.896
- REVEL 0.97
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Ehlers-Danlos syndrome, classic type, 1; Osteogenesis imperfecta)
- UniProt: Conflicting interpretations
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available