D114G (p.Asp114Gly) variant of COL2A1 (Collagen alpha-1(II) chain)
D114G (p.Asp114Gly) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
D114G (p.Asp114Gly) variant details
- p.Asp114Gly
- ExAC rs746493017
- gnomAD rs746493017
- Missense
- Variant Prioritization Score for Impact Estimate 0.593
- REVEL 0.54
- CADD 31.00
- PolyPhen-2 0.24
- SIFT 0.36
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available