L22R (p.Leu22Arg) variant of BIN1 (O00499)
L22R (p.Leu22Arg) in BIN1 (O00499) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
L22R (p.Leu22Arg) variant details
- p.Leu22Arg
- gnomAD rs1383113147
- Missense
- Variant Prioritization Score for Impact Estimate 0.662
- REVEL 0.66
- CADD 32.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available