I8T (p.Ile8Thr) variant of MLH1 (DNA mismatch repair protein Mlh1)
I8T (p.Ile8Thr) in MLH1 (DNA mismatch repair protein Mlh1) 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 0.94 / 1. The record also includes structural context.
I8T (p.Ile8Thr) variant details
- p.Ile8Thr
- rs2125693622
- ClinGen CA352060472
- ClinVar RCV003477297
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.944
- ESM-1b 1.00
- AlphaMissense 1.00
- MutPred 0.79
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available