I276R (p.Ile276Arg) variant of MLH1 (DNA mismatch repair protein Mlh1)
I276R (p.Ile276Arg) 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 0.82 / 1. The record also includes published literature and structural context.
I276R (p.Ile276Arg) variant details
- p.Ile276Arg
- rs1253275403
- ClinGen CA352046042
- ClinVar RCV000623903
- ClinVar RCV003447545
- Pathogenic
- Lynch syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.819
- ESM-1b 1.00
- AlphaMissense 0.97
- MetaLR 0.64
- MetaSVM 0.59
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (Lynch syndrome 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Practice parameters for the identification and testing of patients at risk for dominantly inherited colorectal… (PMID 11598466)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)