P27Q (p.Pro27Gln) variant of MSH2 (DNA mismatch repair protein Msh2)
P27Q (p.Pro27Gln) in MSH2 (DNA mismatch repair protein Msh2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
P27Q (p.Pro27Gln) variant details
- p.Pro27Gln
- gnomAD 2-47403271-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.704
- REVEL 0.69
- ESM-1b 1.00
- AlphaMissense 0.19
- CADD 28.70
- PolyPhen-2 0.84
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available