S14F (p.Ser14Phe) variant of MSH3 (DNA mismatch repair protein Msh3)
S14F (p.Ser14Phe) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes structural context.
S14F (p.Ser14Phe) variant details
- p.Ser14Phe
- rs2112797030
- ClinGen CA360265103
- ClinVar RCV001989702
- Ensembl rs2112797030
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- AlphaMissense 0.15
- MetaLR 0.36
- MetaSVM -0.67
- PolyPhen-2 0.41
- SIFT 0.00
- MutPred 0.20
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available