D75G (p.Asp75Gly) variant of INSR (Insulin receptor)
D75G (p.Asp75Gly) in INSR (Insulin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Monogenic diabetes. 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.
D75G (p.Asp75Gly) variant details
- p.Asp75Gly
- rs142910337
- ClinGen CA9136152
- ClinVar RCV001174372
- ClinVar RCV004538395
- Conflicting interpretations
- not specified; Monogenic diabetes
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.18
- MetaLR 0.12
- MetaSVM -0.92
- CADD 18.30
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (not specified; Monogenic diabetes)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:ESN population (allele frequency 0.0049)
- Structural context available