V7I (p.Val7Ile) variant of MLH1 (DNA mismatch repair protein Mlh1)
V7I (p.Val7Ile) 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 Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes structural context.
V7I (p.Val7Ile) variant details
- p.Val7Ile
- ExAC rs730881746
- TOPMed rs730881746
- gnomAD rs730881746
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- ESM-1b 0.32
- AlphaMissense 0.07
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Benign
- UniProt: Benign
- Structural context available