A25S (p.Ala25Ser) variant of MSH6 (DNA mismatch repair protein Msh6)
A25S (p.Ala25Ser) in MSH6 (DNA mismatch repair protein Msh6) is a missense change. Clinical records from EBI and UniProt describe it as likely benign in the context of in LYNCH5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
A25S (p.Ala25Ser) variant details
- p.Ala25Ser
- rs267608026
- ClinGen CA016371
- ClinVar RCV000075031
- ClinVar RCV000115442
- Likely benign
- in LYNCH5
- Missense
- Variant Prioritization Score for Impact Estimate 0.16
- REVEL 0.08
- MetaLR 0.34
- MetaSVM -0.83
- CADD 3.94
- PolyPhen-2 0.01
- SIFT 0.83
- EBI: Likely benign (in LYNCH5)
- UniProt: Likely benign (in LYNCH5)
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available
- Cited in: A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variants. (PMID 22102614)
- Cited in: American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology… (PMID 24493721)