D114E (p.Asp114Glu) variant of COL2A1 (Collagen alpha-1(II) chain)
D114E (p.Asp114Glu) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
D114E (p.Asp114Glu) variant details
- p.Asp114Glu
- gnomAD rs1341039824
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- REVEL 0.30
- CADD 20.30
- PolyPhen-2 0.01
- SIFT 0.35
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available