S18I (p.Ser18Ile) variant of MSH6 (DNA mismatch repair protein Msh6)
S18I (p.Ser18Ile) in MSH6 (DNA mismatch repair protein Msh6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
S18I (p.Ser18Ile) variant details
- p.Ser18Ile
- gnomAD 2-47783286-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0838
- REVEL 0.08
- CADD 5.32
- PolyPhen-2 0.01
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available