E28E (p.Glu28Glu) variant of MSH2 (DNA mismatch repair protein Msh2)
E28E (p.Glu28Glu) in MSH2 (DNA mismatch repair protein Msh2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
E28E (p.Glu28Glu) variant details
- p.Glu28Glu
- rs752220575
- gnomAD 2-47403275-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.382
- AlphaMissense 0.11
- MetaLR 0.50
- MetaSVM -0.27
- CADD 14.60
- PolyPhen-2 0.01
- SIFT 0.19
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available
- Literature evidence available