M75I (p.Met75Ile) variant of BIN1 (O00499)
M75I (p.Met75Ile) in BIN1 (O00499) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
M75I (p.Met75Ile) variant details
- p.Met75Ile
- gnomAD rs1685760627
- Missense
- Variant Prioritization Score for Impact Estimate 0.584
- REVEL 0.47
- CADD 23.20
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available