M9T (p.Met9Thr) variant of COL4A4 (Collagen alpha-4(IV) chain)
M9T (p.Met9Thr) in COL4A4 (Collagen alpha-4(IV) 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 0.40 / 1. The record also includes structural context.
M9T (p.Met9Thr) variant details
- p.Met9Thr
- rs1440047357
- ClinGen CA350842843
- ClinVar RCV002623308
- TOPMed rs1440047357
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- AlphaMissense 0.12
- MetaLR 0.41
- MetaSVM -0.61
- PolyPhen-2 0.02
- SIFT 0.10
- MutPred 0.60
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available