A153T (p.Ala153Thr) variant of BIN1 (O00499)
A153T (p.Ala153Thr) in BIN1 (O00499) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
A153T (p.Ala153Thr) variant details
- p.Ala153Thr
- gnomAD rs1361643970
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- REVEL 0.35
- CADD 24.40
- PolyPhen-2 0.41
- SIFT 0.01
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available