D2E (p.Asp2Glu) variant of COL5A1 (Collagen alpha-1(V) chain)
D2E (p.Asp2Glu) in COL5A1 (Collagen alpha-1(V) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
D2E (p.Asp2Glu) variant details
- p.Asp2Glu
- rs1064796482
- ClinGen CA16618784
- ClinVar RCV000479742
- TOPMed rs1064796482
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.25
- CADD 17.90
- PolyPhen-2 0.12
- SIFT 0.22
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available