I25F (p.Ile25Phe) variant of MLH1 (DNA mismatch repair protein Mlh1)
I25F (p.Ile25Phe) in MLH1 (DNA mismatch repair protein Mlh1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Lynch syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
I25F (p.Ile25Phe) variant details
- p.Ile25Phe
- rs63749838
- ClinGen CA011880
- ClinVar RCV000075834
- UniProt VAR 043385
- Likely pathogenic
- Lynch syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.977
- ESM-1b 1.00
- AlphaMissense 0.99
- MutPred 0.92
- ClinVar: Likely pathogenic (Lynch syndrome)
- EBI: Pathogenic (in LYNCH2)
- UniProt: Pathogenic (in LYNCH2)
- Structural context available
- Cited in: Novel hMLH1 and hMSH2 germline mutations in African Americans with colorectal cancer. (PMID 10386556)
- Cited in: Practice parameters for the identification and testing of patients at risk for dominantly inherited colorectal… (PMID 11598466)