A70V (p.Ala70Val) variant of BIN1 (O00499)
A70V (p.Ala70Val) in BIN1 (O00499) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
A70V (p.Ala70Val) variant details
- p.Ala70Val
- TOPMed rs1210117688
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.05
- CADD 22.80
- PolyPhen-2 0.03
- SIFT 0.05
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available