L109M (p.Leu109Met) variant of BIN1 (O00499)
L109M (p.Leu109Met) in BIN1 (O00499) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
L109M (p.Leu109Met) variant details
- p.Leu109Met
- gnomAD rs931469037
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- REVEL 0.03
- CADD 23.40
- PolyPhen-2 0.53
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available