T23I (p.Thr23Ile) variant of BIN1 (O00499)
T23I (p.Thr23Ile) in BIN1 (O00499) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
T23I (p.Thr23Ile) variant details
- p.Thr23Ile
- TOPMed rs1681233957
- gnomAD rs1681233957
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- REVEL 0.25
- CADD 25.40
- PolyPhen-2 0.31
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available