L1201V (p.Leu1201Val) variant of MSH6 (DNA mismatch repair protein Msh6)
L1201V (p.Leu1201Val) 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 Lynch syndrome; Hereditary nonpolyposis colon cancer. 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.
L1201V (p.Leu1201Val) variant details
- p.Leu1201Val
- rs182024561
- ClinGen CA013502
- ClinVar RCV000220560
- ClinVar RCV000483164
- Likely pathogenic
- Lynch syndrome; Hereditary nonpolyposis colon cancer
- Missense
- Variant Prioritization Score for Impact Estimate 0.735
- REVEL 0.78
- CADD 24.50
- PolyPhen-2 0.98
- SIFT 0.03
- ClinVar: Likely pathogenic (Lynch syndrome; Hereditary nonpolyposis colon cancer)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Cited in: American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology… (PMID 24493721)
- Cited in: Endometrial cancer: a review and current management strategies: part I. (PMID 24905773)