H88Q (p.His88Gln) variant of COL6A3 (Collagen alpha-3(VI) chain)
H88Q (p.His88Gln) 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 0.42 / 1. The record also includes structural context.
H88Q (p.His88Gln) variant details
- p.His88Gln
- rs1182430977
- ClinGen CA351227824
- ClinVar RCV003145849
- TOPMed rs1182430977
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- AlphaMissense 0.11
- MetaLR 0.34
- MetaSVM -0.56
- PolyPhen-2 0.62
- SIFT 0.33
- MutPred 0.41
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available