I19F (p.Ile19Phe) variant of MLH1 (DNA mismatch repair protein Mlh1)
I19F (p.Ile19Phe) in MLH1 (DNA mismatch repair protein Mlh1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Lynch syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes population frequency data, published literature, and structural context.
I19F (p.Ile19Phe) variant details
- p.Ile19Phe
- rs63750648
- ClinGen CA011026
- ClinVar RCV000075763
- ClinVar RCV000162610
- Pathogenic
- Lynch syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.997
- ESM-1b 1.00
- AlphaMissense 0.99
- ClinVar: Pathogenic (Lynch syndrome 1)
- EBI: Pathogenic (in LYNCH2)
- UniProt: Pathogenic (in LYNCH2)
- Population evidence available
- Structural context available
- Cited in: Germline MSH2 and MLH1 mutational spectrum in HNPCC families from Poland and the Baltic States. (PMID 12362047)
- Cited in: ASCO 2006 update of recommendations for the use of tumor markers in gastrointestinal cancer. (PMID 17060676)