V18G (p.Val18Gly) variant of INSR (Insulin receptor)
V18G (p.Val18Gly) in INSR (Insulin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
V18G (p.Val18Gly) variant details
- p.Val18Gly
- Ensembl rs1968564563
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.31
- MetaLR 0.23
- MetaSVM -0.74
- CADD 17.60
- PolyPhen-2 0.01
- SIFT 0.04
- Most common in the East Asian population (allele frequency 4.1e-05)
- Structural context available