S556R (p.Ser556Arg) variant of MLH1 (DNA mismatch repair protein Mlh1)
S556R (p.Ser556Arg) in MLH1 (DNA mismatch repair protein Mlh1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes structural context.
S556R (p.Ser556Arg) variant details
- p.Ser556Arg
- rs1323236841
- ClinGen CA352061852
- ClinVar RCV001249906
- Ensembl rs1323236841
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.883
- ESM-1b 1.00
- AlphaMissense 0.99
- MutPred 0.55
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available