S39A (p.Ser39Ala) variant of MSH3 (DNA mismatch repair protein Msh3)
S39A (p.Ser39Ala) 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 not provided; Hereditary cancer-predisposing syndrome; Endometrial carcinoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
S39A (p.Ser39Ala) variant details
- p.Ser39Ala
- rs1580538013
- ClinGen CA360265346
- ClinVar RCV001991168
- ClinVar RCV002352694
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome; Endometrial carcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.19
- AlphaMissense 0.06
- MetaLR 0.37
- MetaSVM -0.69
- CADD 10.30
- PolyPhen-2 0.46
- ClinVar: Uncertain significance (not provided; Hereditary cancer-predisposing syndrome; Endometri)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-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)