R18G (p.Arg18Gly) variant of MLH1 (DNA mismatch repair protein Mlh1)
R18G (p.Arg18Gly) 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 Lynch syndrome; Colorectal cancer, hereditary nonpolyposis, type 2; Hereditary c. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
R18G (p.Arg18Gly) variant details
- p.Arg18Gly
- rs367654552
- ClinGen CA036379
- ClinVar RCV000568925
- ClinVar RCV000685595
- Uncertain significance
- Lynch syndrome; Colorectal cancer, hereditary nonpolyposis, type 2; Hereditary c
- Missense
- Variant Prioritization Score for Impact Estimate 0.857
- REVEL 0.84
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 29.80
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Lynch syndrome; Colorectal cancer, hereditary nonpolyposis, type)
- EBI: Variant of uncertain significance (in LYNCH2)
- UniProt: Uncertain significance (in LYNCH2)
- Most common in the HGDP:PATHAN population (allele frequency 0.14)
- Structural context available
- Cited in: Practice parameters for the identification and testing of patients at risk for dominantly inherited colorectal… (PMID 11598466)
- Cited in: American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility. (PMID 20065170)