P6S (p.Pro6Ser) variant of MSH3 (DNA mismatch repair protein Msh3)
P6S (p.Pro6Ser) in MSH3 (DNA mismatch repair protein Msh3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial adenomatous polyposis 4; Hereditary cancer-predisposing syndrome; MSH3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
P6S (p.Pro6Ser) variant details
- p.Pro6Ser
- rs374904719
- ClinGen CA3327419
- ClinVar RCV000805347
- ClinVar RCV001012792
- Uncertain significance
- Familial adenomatous polyposis 4; Hereditary cancer-predisposing syndrome; MSH3
- Missense
- Variant Prioritization Score for Impact Estimate 0.146
- REVEL 0.05
- CADD 17.70
- PolyPhen-2 0.00
- SIFT 0.12
- ClinVar: Uncertain significance (Familial adenomatous polyposis 4; Hereditary cancer-predisposing)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.00025)
- 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)