S2F (p.Ser2Phe) variant of MSH3 (DNA mismatch repair protein Msh3)
S2F (p.Ser2Phe) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
S2F (p.Ser2Phe) variant details
- p.Ser2Phe
- rs768844493
- ClinGen CA3327414
- ClinVar RCV001070709
- ClinVar RCV002355101
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.25
- AlphaMissense 0.15
- MetaLR 0.50
- MetaSVM -0.44
- CADD 23.50
- PolyPhen-2 0.97
- ClinVar: Uncertain significance (not provided; Hereditary cancer-predisposing syndrome)
- 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: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)