A16A (p.Ala16Ala) variant of MSH6 (DNA mismatch repair protein Msh6)
A16A (p.Ala16Ala) in MSH6 (DNA mismatch repair protein Msh6) is a synonymous 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.
A16A (p.Ala16Ala) variant details
- p.Ala16Ala
- rs1250671114
- gnomAD 2-47783281-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.703
- CADD 12.20
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available
- Literature evidence available