A163S (p.Ala163Ser) variant of BIN1 (O00499)
A163S (p.Ala163Ser) in BIN1 (O00499) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
A163S (p.Ala163Ser) variant details
- p.Ala163Ser
- TOPMed rs1210981592
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.06
- CADD 17.80
- PolyPhen-2 0.02
- SIFT 0.65
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available