E52D (p.Glu52Asp) variant of COL11A1 (Collagen alpha-1(XI) chain)
E52D (p.Glu52Asp) in COL11A1 (Collagen alpha-1(XI) 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 0.16 / 1. The record also includes population frequency data and structural context.
E52D (p.Glu52Asp) variant details
- p.Glu52Asp
- gnomAD rs1047945584
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.164
- REVEL 0.09
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 14.30
- PolyPhen-2 0.16
- SIFT 0.47
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available