Q26P (p.Gln26Pro) variant of COL6A3 (Collagen alpha-3(VI) chain)
Q26P (p.Gln26Pro) in COL6A3 (Collagen alpha-3(VI) 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 0.63 / 1. The record also includes structural context.
Q26P (p.Gln26Pro) variant details
- p.Gln26Pro
- rs1381568881
- ClinGen CA351229170
- ClinVar RCV003145836
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.631
- AlphaMissense 0.09
- MetaLR 0.77
- MetaSVM 0.54
- PolyPhen-2 1.00
- SIFT 0.21
- MutPred 0.25
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available