P399T (p.Pro399Thr) variant of MLH1 (DNA mismatch repair protein Mlh1)
P399T (p.Pro399Thr) in MLH1 (DNA mismatch repair protein Mlh1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hereditary cancer-predisposing syndrome; Colorectal cancer, hereditary nonpolypo. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes structural context.
P399T (p.Pro399Thr) variant details
- p.Pro399Thr
- Ensembl rs876659657
- Pathogenic/Likely pathogenic
- Hereditary cancer-predisposing syndrome; Colorectal cancer, hereditary nonpolypo
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- REVEL 0.49
- ESM-1b 1.00
- AlphaMissense 0.16
- ClinVar: Pathogenic/Likely pathogenic (Hereditary cancer-predisposing syndrome; Colorectal cancer, here)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available