Q62Q (p.Gln62Gln) variant of INS (Insulin)
Q62Q (p.Gln62Gln) in INS (Insulin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
Q62Q (p.Gln62Gln) variant details
- p.Gln62Gln
- rs1845873464
- gnomAD 11-2160786-C-T
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.199
- CADD 7.05
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Literature evidence available