D32E (p.Asp32Glu) variant of COL1A1 (Collagen alpha-1(I) chain)
D32E (p.Asp32Glu) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
D32E (p.Asp32Glu) variant details
- p.Asp32Glu
- rs1293214060
- ClinGen CA400230091
- ClinVar RCV003885251
- TOPMed rs1293214060
- Conflicting interpretations
- Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.30
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 15.30
- PolyPhen-2 0.00
- SIFT 0.61
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BIAKA population (allele frequency 0.023)
- Structural context available