G5V (p.Gly5Val) variant of INSR (Insulin receptor)
G5V (p.Gly5Val) in INSR (Insulin receptor) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
G5V (p.Gly5Val) variant details
- p.Gly5Val
- TOPMed rs886054690
- gnomAD rs886054690
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.149
- REVEL 0.12
- MetaLR 0.11
- MetaSVM -1.01
- CADD 12.00
- PolyPhen-2 0.00
- SIFT 0.20
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available