Q28R (p.Gln28Arg) variant of INS (Insulin)
Q28R (p.Gln28Arg) in INS (Insulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
Q28R (p.Gln28Arg) variant details
- p.Gln28Arg
- gnomAD 11-2160889-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- REVEL 0.62
- MetaLR 0.66
- MetaSVM 0.15
- CADD 20.20
- PolyPhen-2 0.06
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available