G117A (p.Gly117Ala) variant of COL2A1 (Collagen alpha-1(II) chain)
G117A (p.Gly117Ala) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
G117A (p.Gly117Ala) variant details
- p.Gly117Ala
- rs201192882
- ClinGen CA6535980
- ClinVar RCV000522522
- 1000Genomes rs201192882
- Conflicting interpretations
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.845
- REVEL 0.89
- CADD 26.00
- PolyPhen-2 0.99
- SIFT 0.04
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available