G8A (p.Gly8Ala) variant of INSR (Insulin receptor)
G8A (p.Gly8Ala) in INSR (Insulin receptor) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
G8A (p.Gly8Ala) variant details
- p.Gly8Ala
- TOPMed rs970356148
- gnomAD rs970356148
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.143
- REVEL 0.08
- MetaLR 0.21
- MetaSVM -0.96
- CADD 1.39
- PolyPhen-2 0.01
- SIFT 0.52
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00023)
- Structural context available