Q4H (p.Gln4His) variant of MSH6 (DNA mismatch repair protein Msh6)
Q4H (p.Gln4His) in MSH6 (DNA mismatch repair protein Msh6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
Q4H (p.Gln4His) variant details
- p.Gln4His
- rs1558644700
- ClinGen CA346734479
- ClinVar RCV002380812
- ClinVar RCV003465713
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- REVEL 0.50
- MetaLR 0.67
- MetaSVM 0.18
- CADD 24.00
- PolyPhen-2 0.68
- SIFT 0.03
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Structural context available
- Cited in: American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology… (PMID 24493721)
- Cited in: Endometrial cancer: a review and current management strategies: part I. (PMID 24905773)