S13C (p.Ser13Cys) variant of MSH2 (DNA mismatch repair protein Msh2)
S13C (p.Ser13Cys) in MSH2 (DNA mismatch repair protein Msh2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes structural context.
S13C (p.Ser13Cys) variant details
- p.Ser13Cys
- Ensembl rs2103868921
- Likely benign
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.636
- ESM-1b 1.00
- AlphaMissense 0.20
- ClinVar: Likely benign (not specified)
- EBI: uncertain significance (in CRC)
- UniProt: Uncertain significance (in CRC)
- Structural context available