E12A (p.Glu12Ala) variant of MSH2 (DNA mismatch repair protein Msh2)
E12A (p.Glu12Ala) in MSH2 (DNA mismatch repair protein Msh2) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes published literature and structural context.
E12A (p.Glu12Ala) variant details
- p.Glu12Ala
- rs1553348722
- ClinGen CA346728510
- ClinVar RCV000530789
- ClinVar RCV003362822
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.635
- ESM-1b 1.00
- AlphaMissense 0.48
- MetaLR 0.58
- MetaSVM -0.00
- PolyPhen-2 0.01
- SIFT 0.02
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
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