L160R (p.Leu160Arg) variant of BIN1 (O00499)
L160R (p.Leu160Arg) 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.
L160R (p.Leu160Arg) variant details
- p.Leu160Arg
- TOPMed rs1039877281
- gnomAD rs1039877281
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- REVEL 0.41
- CADD 27.90
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available