S8L (p.Ser8Leu) variant of MSH3 (DNA mismatch repair protein Msh3)
S8L (p.Ser8Leu) 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 Hereditary cancer-predisposing syndrome; not provided; Endometrial carcinoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
S8L (p.Ser8Leu) variant details
- p.Ser8Leu
- rs2546709784
- ClinGen CA360264803
- ClinVar RCV003461900
- ClinVar RCV003720918
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided; Endometrial carcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.15
- CADD 14.30
- PolyPhen-2 0.02
- SIFT 0.04
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided; Endometri)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-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)