E130V (p.Glu130Val) variant of INSR (Insulin receptor)
E130V (p.Glu130Val) in INSR (Insulin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
E130V (p.Glu130Val) variant details
- p.Glu130Val
- gnomAD rs1413502338
- Missense
- Variant Prioritization Score for Impact Estimate 0.757
- REVEL 0.81
- MetaLR 0.75
- MetaSVM 0.72
- CADD 28.60
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available