I25S (p.Ile25Ser) variant of MLH1 (DNA mismatch repair protein Mlh1)
I25S (p.Ile25Ser) 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 nonpolyposis colorectal neoplasms. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes structural context.
I25S (p.Ile25Ser) variant details
- p.Ile25Ser
- rs63750514
- ClinGen CA352060907
- ClinVar RCV003758388
- Uncertain significance
- Hereditary nonpolyposis colorectal neoplasms
- Missense
- Variant Prioritization Score for Impact Estimate 0.972
- ESM-1b 1.00
- AlphaMissense 1.00
- MutPred 0.89
- ClinVar: Uncertain significance (Hereditary nonpolyposis colorectal neoplasms)
- EBI: Variant of uncertain significance (in LYNCH2)
- UniProt: Uncertain significance (in LYNCH2)
- Structural context available