L16F (p.Leu16Phe) variant of INS (Insulin)
L16F (p.Leu16Phe) in INS (Insulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
L16F (p.Leu16Phe) variant details
- p.Leu16Phe
- cosmic curated COSV99171
- gnomAD rs1381231935
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.18
- MetaLR 0.41
- MetaSVM -0.69
- CADD 13.40
- PolyPhen-2 0.01
- SIFT 0.19
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available