R56W (p.Arg56Trp) variant of INS (Insulin)
R56W (p.Arg56Trp) in INS (Insulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
R56W (p.Arg56Trp) variant details
- p.Arg56Trp
- ExAC rs781016664
- gnomAD rs781016664
- Missense
- Variant Prioritization Score for Impact Estimate 0.644
- REVEL 0.75
- MetaLR 0.84
- MetaSVM 0.74
- CADD 26.40
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available