A141V (p.Ala141Val) variant of BIN1 (O00499)
A141V (p.Ala141Val) in BIN1 (O00499) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
A141V (p.Ala141Val) variant details
- p.Ala141Val
- TOPMed rs1685518327
- Missense
- Variant Prioritization Score for Impact Estimate 0.592
- REVEL 0.42
- CADD 31.00
- PolyPhen-2 0.95
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available