A12A (p.Ala12Ala) variant of MSH3 (DNA mismatch repair protein Msh3)
A12A (p.Ala12Ala) in MSH3 (DNA mismatch repair protein Msh3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
A12A (p.Ala12Ala) variant details
- p.Ala12Ala
- rs1749188879
- gnomAD 5-80654763-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.126
- CADD 6.36
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available