I46T (p.Ile46Thr) variant of IDH1 (O75874)
I46T (p.Ile46Thr) in IDH1 (O75874) 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 0.66 / 1. The record also includes structural context.
I46T (p.Ile46Thr) variant details
- p.Ile46Thr
- rs2124864039
- ClinGen CA350102537
- ClinVar RCV004058935
- Ensembl rs2124864039
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.657
- AlphaMissense 0.73
- MetaLR 0.60
- MetaSVM 0.37
- PolyPhen-2 0.53
- SIFT 0.00
- EVE 0.64
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available