S295G (p.Ser295Gly) variant of MLH1 (DNA mismatch repair protein Mlh1)
S295G (p.Ser295Gly) in MLH1 (DNA mismatch repair protein Mlh1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Lynch syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
S295G (p.Ser295Gly) variant details
- p.Ser295Gly
- rs63751598
- ClinGen CA012803
- ClinVar RCV000075902
- ClinVar RCV000561374
- Pathogenic
- Lynch syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.861
- ESM-1b 1.00
- AlphaMissense 0.93
- MetaLR 0.77
- MetaSVM 0.72
- PolyPhen-2 0.78
- SIFT 0.00
- ClinVar: Pathogenic (Lynch syndrome)
- EBI: Pathogenic (in LYNCH2)
- UniProt: Pathogenic (in LYNCH2)
- Structural context available
- Cited in: ASCO 2006 update of recommendations for the use of tumor markers in gastrointestinal cancer. (PMID 17060676)
- Cited in: National Academy of Clinical Biochemistry laboratory medicine practice guidelines for use of tumor markers in… (PMID 19042984)