E30E (p.Glu30Glu) variant of MSH6 (DNA mismatch repair protein Msh6)
E30E (p.Glu30Glu) in MSH6 (DNA mismatch repair protein Msh6) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
E30E (p.Glu30Glu) variant details
- p.Glu30Glu
- rs1060504760
- gnomAD 2-47783323-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.298
- CADD 9.32
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available
- Literature evidence available