A23A (p.Ala23Ala) variant of MSH6 (DNA mismatch repair protein Msh6)
A23A (p.Ala23Ala) in MSH6 (DNA mismatch repair protein Msh6) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
A23A (p.Ala23Ala) variant details
- p.Ala23Ala
- rs1057522077
- gnomAD 2-47783302-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.223
- CADD 7.82
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available
- Literature evidence available