W413R (p.Trp413Arg) variant of MSH6 (DNA mismatch repair protein Msh6)
W413R (p.Trp413Arg) in MSH6 (DNA mismatch repair protein Msh6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary nonpolyposis colorectal neoplasms; Lynch syndrome 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
W413R (p.Trp413Arg) variant details
- p.Trp413Arg
- rs2104330278
- ClinGen CA346743708
- ClinVar RCV002012824
- ClinVar RCV003453943
- Likely pathogenic
- Hereditary nonpolyposis colorectal neoplasms; Lynch syndrome 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.791
- REVEL 0.89
- CADD 28.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Hereditary nonpolyposis colorectal neoplasms; Lynch syndrome 5)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Lynch Syndrome. (PMID 20301390)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)