A27S (p.Ala27Ser) variant of MSH6 (DNA mismatch repair protein Msh6)
A27S (p.Ala27Ser) in MSH6 (DNA mismatch repair protein Msh6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
A27S (p.Ala27Ser) variant details
- p.Ala27Ser
- gnomAD 2-47783312-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.12
- CADD 8.37
- PolyPhen-2 0.00
- SIFT 0.61
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available