A19E (p.Ala19Glu) variant of MSH3 (DNA mismatch repair protein Msh3)
A19E (p.Ala19Glu) in MSH3 (DNA mismatch repair protein Msh3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
A19E (p.Ala19Glu) variant details
- p.Ala19Glu
- gnomAD 5-80654783-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.25
- CADD 18.50
- PolyPhen-2 0.42
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available