A14S (p.Ala14Ser) variant of MSH2 (DNA mismatch repair protein Msh2)
A14S (p.Ala14Ser) in MSH2 (DNA mismatch repair protein Msh2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
A14S (p.Ala14Ser) variant details
- p.Ala14Ser
- gnomAD 2-47403231-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.32
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 22.70
- PolyPhen-2 0.01
- SIFT 0.26
- Population evidence available
- Structural context available
- Literature evidence available