S71F (p.Ser71Phe) variant of BIN1 (O00499)
S71F (p.Ser71Phe) in BIN1 (O00499) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
S71F (p.Ser71Phe) variant details
- p.Ser71Phe
- TOPMed rs1685785345
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- REVEL 0.34
- CADD 24.70
- PolyPhen-2 0.05
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available