I140V (p.Ile140Val) variant of BIN1 (O00499)
I140V (p.Ile140Val) in BIN1 (O00499) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
I140V (p.Ile140Val) variant details
- p.Ile140Val
- TOPMed rs1407049344
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.21
- CADD 23.80
- PolyPhen-2 0.76
- SIFT 0.20
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available