S13G (p.Ser13Gly) variant of MSH2 (DNA mismatch repair protein Msh2)
S13G (p.Ser13Gly) in MSH2 (DNA mismatch repair protein Msh2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in CRC. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes structural context.
S13G (p.Ser13Gly) variant details
- p.Ser13Gly
- Ensembl rs2103868921
- Uncertain significance
- in CRC
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.41
- ESM-1b 0.00
- AlphaMissense 0.06
- EBI: uncertain significance (in CRC)
- UniProt: Uncertain significance (in CRC)
- Structural context available