S12F (p.Ser12Phe) variant of MSI1 (O43347)
S12F (p.Ser12Phe) in MSI1 (O43347) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
S12F (p.Ser12Phe) variant details
- p.Ser12Phe
- Ensembl rs1241648802
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.09
- CADD 22.60
- PolyPhen-2 0.11
- SIFT 0.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available