R265P (p.Arg265Pro) variant of MLH1 (DNA mismatch repair protein Mlh1)
R265P (p.Arg265Pro) in MLH1 (DNA mismatch repair protein Mlh1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Lynch syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
R265P (p.Arg265Pro) variant details
- p.Arg265Pro
- rs63751448
- ClinGen CA352045762
- ClinVar RCV000567811
- ClinVar RCV000680199
- Likely pathogenic
- Lynch syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.845
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.73
- MetaSVM 0.79
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Lynch syndrome 1)
- EBI: Pathogenic (in LYNCH2)
- UniProt: Pathogenic (in LYNCH2)
- Structural context available
- Cited in: Practice parameters for the identification and testing of patients at risk for dominantly inherited colorectal… (PMID 11598466)
- Cited in: American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility. (PMID 20065170)