R265S (p.Arg265Ser) variant of MLH1 (DNA mismatch repair protein Mlh1)
R265S (p.Arg265Ser) 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 0.97 / 1. The record also includes published literature and structural context.
R265S (p.Arg265Ser) variant details
- p.Arg265Ser
- rs63751194
- ClinGen CA012384
- cosmic curated COSV10940
- ClinVar RCV000075871
- Pathogenic
- Lynch syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.969
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.94
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Lynch syndrome)
- EBI: Pathogenic (in LYNCH2)
- UniProt: Pathogenic (in LYNCH2)
- Structural context available
- Cited in: A cell-free assay for the functional analysis of variants of the mismatch repair protein MLH1. (PMID 20020535)
- Cited in: ASCO 2006 update of recommendations for the use of tumor markers in gastrointestinal cancer. (PMID 17060676)