Q4H (p.Gln4His) variant of MSH2 (DNA mismatch repair protein Msh2)
Q4H (p.Gln4His) in MSH2 (DNA mismatch repair protein Msh2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Lynch syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
Q4H (p.Gln4His) variant details
- p.Gln4His
- rs878853800
- ClinGen CA346728424
- ClinVar RCV000758584
- TOPMed rs878853800
- Likely benign
- Lynch syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.585
- REVEL 0.62
- ESM-1b 1.00
- AlphaMissense 0.59
- MetaLR 0.79
- MetaSVM 0.56
- CADD 22.60
- ClinVar: Likely benign (Lynch syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.062)
- 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)