G18D (p.Gly18Asp) variant of MSH2 (DNA mismatch repair protein Msh2)
G18D (p.Gly18Asp) in MSH2 (DNA mismatch repair protein Msh2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Lynch syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
G18D (p.Gly18Asp) variant details
- p.Gly18Asp
- rs1200418561
- ClinGen CA346728579
- ClinVar RCV000758585
- gnomAD rs1200418561
- Uncertain significance
- Lynch syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.715
- REVEL 0.79
- ESM-1b 1.00
- AlphaMissense 0.22
- MetaLR 0.78
- MetaSVM 0.69
- CADD 26.80
- ClinVar: Uncertain significance (Lynch syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- 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: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)