R100P (p.Arg100Pro) variant of MLH1 (DNA mismatch repair protein Mlh1)
R100P (p.Arg100Pro) 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 1. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes population frequency data, published literature, and structural context.
R100P (p.Arg100Pro) variant details
- p.Arg100Pro
- rs63750266
- ClinGen CA009587
- ClinVar RCV000075619
- ClinVar RCV001532480
- Pathogenic
- Lynch syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 1
- ESM-1b 1.00
- AlphaMissense 1.00
- ClinVar: Pathogenic (Lynch syndrome 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- 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)