A20S (p.Ala20Ser) variant of MSH6 (DNA mismatch repair protein Msh6)
A20S (p.Ala20Ser) in MSH6 (DNA mismatch repair protein Msh6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
A20S (p.Ala20Ser) variant details
- p.Ala20Ser
- gnomAD 2-47783291-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.14
- CADD 2.15
- PolyPhen-2 0.01
- SIFT 0.69
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available
- Literature evidence available