R27P (p.Arg27Pro) variant of MLH1 (DNA mismatch repair protein Mlh1)
R27P (p.Arg27Pro) in MLH1 (DNA mismatch repair protein Mlh1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
R27P (p.Arg27Pro) variant details
- p.Arg27Pro
- rs138705565
- ClinGen CA012479
- ClinVar RCV000030232
- ClinVar RCV000662420
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.945
- ESM-1b 1.00
- AlphaMissense 1.00
- MutPred 0.79
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)