K177T (p.Lys177Thr) variant of MSI1 (O43347)
K177T (p.Lys177Thr) in MSI1 (O43347) 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 0.44 / 1. The record also includes population frequency data and structural context.
K177T (p.Lys177Thr) variant details
- p.Lys177Thr
- rs199511098
- ClinGen CA6827740
- ClinVar RCV004159643
- 1000Genomes rs199511098
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- AlphaMissense 0.81
- MetaLR 0.32
- MetaSVM -0.30
- PolyPhen-2 0.97
- SIFT 0.03
- MutPred 0.44
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available