S8P (p.Ser8Pro) variant of MSH3 (DNA mismatch repair protein Msh3)
S8P (p.Ser8Pro) 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 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
S8P (p.Ser8Pro) variant details
- p.Ser8Pro
- rs1313510221
- ClinGen CA360264800
- ClinVar RCV000794081
- ClinVar RCV002424802
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided; Endometrial carcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- REVEL 0.21
- AlphaMissense 0.07
- MetaLR 0.42
- MetaSVM -0.72
- CADD 14.80
- PolyPhen-2 0.00
- 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 1.5e-05)
- 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)