I107R (p.Ile107Arg) variant of MLH1 (DNA mismatch repair protein Mlh1)
I107R (p.Ile107Arg) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
I107R (p.Ile107Arg) variant details
- p.Ile107Arg
- rs63750507
- ClinGen CA009787
- ClinVar RCV000075654
- ClinVar RCV000160517
- Pathogenic
- Lynch syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.822
- REVEL 0.89
- ESM-1b 1.00
- AlphaMissense 1.00
- CADD 28.10
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (Lynch syndrome)
- EBI: Pathogenic (in LYNCH2)
- UniProt: Pathogenic (in LYNCH2)
- Most common in the HGDP:BEDOUIN population (allele frequency 0.012)
- Structural context available
- Cited in: Functional analysis of MLH1 mutations linked to hereditary nonpolyposis colon cancer. (PMID 11793442)
- Cited in: Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1. (PMID 16083711)