R9W (p.Arg9Trp) variant of MLH1 (DNA mismatch repair protein Mlh1)
R9W (p.Arg9Trp) 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 Colorectal cancer, hereditary nonpolyposis, type 2; Hereditary cancer-predisposi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
R9W (p.Arg9Trp) variant details
- p.Arg9Trp
- rs587779000
- ClinGen CA009458
- ClinVar RCV000579430
- ClinVar RCV000822650
- Uncertain significance
- Colorectal cancer, hereditary nonpolyposis, type 2; Hereditary cancer-predisposi
- Missense
- Variant Prioritization Score for Impact Estimate 0.849
- REVEL 0.86
- ESM-1b 1.00
- AlphaMissense 0.43
- CADD 32.00
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (Colorectal cancer, hereditary nonpolyposis, type 2; Hereditary c)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- 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)