R46C (p.Arg46Cys) variant of ADD1 (Alpha-adducin)
R46C (p.Arg46Cys) in ADD1 (Alpha-adducin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
R46C (p.Arg46Cys) variant details
- p.Arg46Cys
- cosmic curated COSV53276
- ExAC rs761391265
- gnomAD rs761391265
- Missense
- Variant Prioritization Score for Impact Estimate 0.535
- REVEL 0.33
- ESM-1b 1.00
- AlphaMissense 0.97
- MetaLR 0.22
- MetaSVM -0.62
- CADD 33.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.7e-05)
- Structural context available