S16L (p.Ser16Leu) variant of MSH3 (DNA mismatch repair protein Msh3)
S16L (p.Ser16Leu) in MSH3 (DNA mismatch repair protein Msh3) 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.
S16L (p.Ser16Leu) variant details
- p.Ser16Leu
- gnomAD 5-80654774-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- REVEL 0.24
- CADD 20.50
- PolyPhen-2 0.02
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available