A19G (p.Ala19Gly) variant of INSR (Insulin receptor)
A19G (p.Ala19Gly) in INSR (Insulin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
A19G (p.Ala19Gly) variant details
- p.Ala19Gly
- Ensembl rs1968564394
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.12
- MetaLR 0.23
- MetaSVM -0.91
- CADD 21.50
- PolyPhen-2 0.03
- SIFT 0.33
- Most common in the Ashkenazi Jewish population (allele frequency 5.6e-05)
- Structural context available