V18L (p.Val18Leu) variant of BIN1 (O00499)
V18L (p.Val18Leu) in BIN1 (O00499) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
V18L (p.Val18Leu) variant details
- p.Val18Leu
- 1000Genomes rs566597765
- ExAC rs566597765
- TOPMed rs566597765
- gnomAD rs566597765
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.15
- CADD 24.00
- PolyPhen-2 0.00
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available