M4I (p.Met4Ile) variant of BIN1 (O00499)
M4I (p.Met4Ile) in BIN1 (O00499) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
M4I (p.Met4Ile) variant details
- p.Met4Ile
- gnomAD rs1681239868
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- REVEL 0.03
- CADD 22.20
- PolyPhen-2 0.01
- SIFT 0.50
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available