D51E (p.Asp51Glu) variant of COL1A1 (Collagen alpha-1(I) chain)
D51E (p.Asp51Glu) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
D51E (p.Asp51Glu) variant details
- p.Asp51Glu
- 1000Genomes rs533165364
- ExAC rs533165364
- gnomAD rs533165364
- Likely benign
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.169
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.64
- CADD 14.10
- ClinVar: Likely benign (Cardiovascular phenotype)
- UniProt: Likely benign
- Most common in the Ashkenazi Jewish population (allele frequency 0.0052)
- Structural context available