E28Q (p.Glu28Gln) variant of MSH2 (DNA mismatch repair protein Msh2)
E28Q (p.Glu28Gln) in MSH2 (DNA mismatch repair protein Msh2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
E28Q (p.Glu28Gln) variant details
- p.Glu28Gln
- gnomAD 2-47403273-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.585
- REVEL 0.52
- ESM-1b 0.87
- AlphaMissense 0.16
- CADD 24.00
- PolyPhen-2 0.14
- SIFT 0.09
- Most common in the HGDP:TU population (allele frequency 0.1)
- Structural context available
- Literature evidence available