S30F (p.Ser30Phe) variant of MSH3 (DNA mismatch repair protein Msh3)
S30F (p.Ser30Phe) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
S30F (p.Ser30Phe) variant details
- p.Ser30Phe
- rs1580537891
- ClinGen CA360265268
- ClinVar RCV000814997
- ClinVar RCV004028835
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- REVEL 0.27
- AlphaMissense 0.18
- MetaLR 0.49
- MetaSVM -0.43
- CADD 23.30
- PolyPhen-2 0.89
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)