P15S (p.Pro15Ser) variant of MSH6 (DNA mismatch repair protein Msh6)
P15S (p.Pro15Ser) in MSH6 (DNA mismatch repair protein Msh6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
P15S (p.Pro15Ser) variant details
- p.Pro15Ser
- rs776745497
- ClinGen CA015522
- ClinVar RCV000164343
- ClinVar RCV000793874
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.38
- MetaLR 0.51
- MetaSVM 0.04
- CADD 22.40
- PolyPhen-2 0.08
- SIFT 0.14
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 3.4e-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)