L16Q (p.Leu16Gln) variant of INS (Insulin)
L16Q (p.Leu16Gln) in INS (Insulin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
L16Q (p.Leu16Gln) variant details
- p.Leu16Gln
- rs1845879289
- gnomAD 11-2160909-TGGGTC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.263
- CADD 25.80
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available