R27W (p.Arg27Trp) variant of MLH1 (DNA mismatch repair protein Mlh1)
R27W (p.Arg27Trp) in MLH1 (DNA mismatch repair protein Mlh1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Colorectal cancer, hereditary nonpolyposis, type 2; Hereditary cancer-predisposi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
R27W (p.Arg27Trp) variant details
- p.Arg27Trp
- rs756398627
- ClinGen CA038419
- ClinVar RCV000570479
- ClinVar RCV000822281
- Conflicting interpretations
- Colorectal cancer, hereditary nonpolyposis, type 2; Hereditary cancer-predisposi
- Missense
- Variant Prioritization Score for Impact Estimate 0.727
- REVEL 0.79
- ESM-1b 1.00
- AlphaMissense 0.91
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Colorectal cancer, hereditary nonpolyposis, type 2; Hereditary c)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- 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)