M126I (p.Met126Ile) variant of BIN1 (O00499)
M126I (p.Met126Ile) in BIN1 (O00499) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
M126I (p.Met126Ile) variant details
- p.Met126Ile
- gnomAD rs1227561308
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.18
- CADD 23.60
- PolyPhen-2 0.01
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available