L55V (p.Leu55Val) variant of BIN1 (O00499)
L55V (p.Leu55Val) in BIN1 (O00499) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
L55V (p.Leu55Val) variant details
- p.Leu55Val
- ExAC rs756941660
- gnomAD rs756941660
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.07
- CADD 25.50
- PolyPhen-2 0.32
- SIFT 0.13
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available