G18V (p.Gly18Val) variant of INS (Insulin)
G18V (p.Gly18Val) in INS (Insulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
G18V (p.Gly18Val) variant details
- p.Gly18Val
- gnomAD 11-2160919-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.33
- MetaLR 0.35
- MetaSVM -0.84
- CADD 14.30
- PolyPhen-2 0.00
- SIFT 0.58
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available