Q10H (p.Gln10His) variant of MSH2 (DNA mismatch repair protein Msh2)
Q10H (p.Gln10His) in MSH2 (DNA mismatch repair protein Msh2) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
Q10H (p.Gln10His) variant details
- p.Gln10His
- rs786203228
- gnomAD rs786203228
- ClinGen CA021004
- ClinVar RCV000166449
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- REVEL 0.49
- ESM-1b 0.00
- AlphaMissense 0.17
- MetaLR 0.44
- MetaSVM -0.29
- CADD 22.70
- EBI: Benign
- UniProt: Benign
- Most common in the REMAINING population (allele frequency 3.3e-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)