M4V (p.Met4Val) variant of BIN1 (O00499)
M4V (p.Met4Val) in BIN1 (O00499) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
M4V (p.Met4Val) variant details
- p.Met4Val
- TOPMed rs1207990622
- gnomAD rs1207990622
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.04
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.18
- Population evidence available
- Structural context available