D41V (p.Asp41Val) variant of BIN1 (O00499)
D41V (p.Asp41Val) in BIN1 (O00499) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
D41V (p.Asp41Val) variant details
- p.Asp41Val
- TOPMed rs1388029180
- gnomAD rs1388029180
- Missense
- Variant Prioritization Score for Impact Estimate 0.804
- REVEL 0.90
- CADD 32.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available