D111E (p.Asp111Glu) variant of COL2A1 (Collagen alpha-1(II) chain)
D111E (p.Asp111Glu) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
D111E (p.Asp111Glu) variant details
- p.Asp111Glu
- ExAC rs760076089
- TOPMed rs760076089
- gnomAD rs760076089
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.29
- CADD 17.90
- PolyPhen-2 0.01
- SIFT 0.40
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available