Q54R (p.Gln54Arg) variant of BIN1 (O00499)
Q54R (p.Gln54Arg) in BIN1 (O00499) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
Q54R (p.Gln54Arg) variant details
- p.Gln54Arg
- TOPMed rs1163498945
- gnomAD rs1163498945
- Missense
- Variant Prioritization Score for Impact Estimate 0.637
- REVEL 0.62
- CADD 29.60
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available