P95S (p.Pro95Ser) variant of BIN1 (O00499)
P95S (p.Pro95Ser) in BIN1 (O00499) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
P95S (p.Pro95Ser) variant details
- p.Pro95Ser
- ExAC rs749504481
- gnomAD rs749504481
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.15
- CADD 18.10
- PolyPhen-2 0.08
- SIFT 0.39
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available