E30Q (p.Glu30Gln) variant of MSH6 (DNA mismatch repair protein Msh6)
E30Q (p.Glu30Gln) in MSH6 (DNA mismatch repair protein Msh6) 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 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
E30Q (p.Glu30Gln) variant details
- p.Glu30Gln
- rs1445690889
- ClinGen CA346734813
- ClinVar RCV000573405
- ClinVar RCV000703961
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.22
- MetaLR 0.32
- MetaSVM -0.81
- CADD 15.40
- PolyPhen-2 0.00
- SIFT 0.35
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- 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)