R10Q (p.Arg10Gln) variant of MLH1 (DNA mismatch repair protein Mlh1)
R10Q (p.Arg10Gln) in MLH1 (DNA mismatch repair protein Mlh1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-p. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
R10Q (p.Arg10Gln) variant details
- p.Arg10Gln
- rs777971423
- ClinGen CA034460
- ClinVar RCV000221934
- ClinVar RCV000690244
- Uncertain significance
- not specified; Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-p
- Missense
- Variant Prioritization Score for Impact Estimate 0.791
- REVEL 0.75
- ESM-1b 1.00
- AlphaMissense 0.39
- CADD 33.00
- PolyPhen-2 0.90
- SIFT 0.01
- ClinVar: Uncertain significance (not specified; Hereditary nonpolyposis colorectal neoplasms; Her)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 5.6e-05)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: Practice parameters for the identification and testing of patients at risk for dominantly inherited colorectal… (PMID 11598466)