F44S (p.Phe44Ser) variant of BIN1 (O00499)
F44S (p.Phe44Ser) in BIN1 (O00499) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
F44S (p.Phe44Ser) variant details
- p.Phe44Ser
- TOPMed rs1467098257
- Missense
- Variant Prioritization Score for Impact Estimate 0.81
- REVEL 0.90
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available