E26Q (p.Glu26Gln) variant of COL3A1 (Collagen alpha-1(III) chain)
E26Q (p.Glu26Gln) in COL3A1 (Collagen alpha-1(III) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes structural context.
E26Q (p.Glu26Gln) variant details
- p.Glu26Gln
- rs1687767912
- ClinGen CA349845497
- ClinVar RCV001175532
- TOPMed rs1687767912
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- AlphaMissense 0.08
- MetaLR 0.38
- MetaSVM -0.72
- PolyPhen-2 0.00
- SIFT 0.25
- MutPred 0.46
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available