R10W (p.Arg10Trp) variant of MLH1 (DNA mismatch repair protein Mlh1)
R10W (p.Arg10Trp) 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 not specified; Colorectal cancer, hereditary nonpolyposis, type 2; Hereditary no. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
R10W (p.Arg10Trp) variant details
- p.Arg10Trp
- rs1193754562
- ClinGen CA352060492
- ClinVar RCV000580563
- ClinVar RCV001048967
- Uncertain significance
- not specified; Colorectal cancer, hereditary nonpolyposis, type 2; Hereditary no
- Missense
- Variant Prioritization Score for Impact Estimate 0.711
- REVEL 0.85
- ESM-1b 1.00
- AlphaMissense 0.87
- CADD 28.60
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not specified; Colorectal cancer, hereditary nonpolyposis, type)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:BRAHUI population (allele frequency 0.065)
- 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)