R56G (p.Arg56Gly) variant of INS (Insulin)
R56G (p.Arg56Gly) in INS (Insulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
R56G (p.Arg56Gly) variant details
- p.Arg56Gly
- gnomAD 11-2160806-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.603
- REVEL 0.71
- MetaLR 0.74
- MetaSVM 0.49
- CADD 25.10
- PolyPhen-2 0.99
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available