Y30H (p.Tyr30His) variant of INSR (Insulin receptor)
Y30H (p.Tyr30His) in INSR (Insulin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
Y30H (p.Tyr30His) variant details
- p.Tyr30His
- TOPMed rs1600141148
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- REVEL 0.07
- MetaLR 0.22
- MetaSVM -0.96
- CADD 20.20
- PolyPhen-2 0.00
- SIFT 0.54
- Most common in the Latino/Admixed American population (allele frequency 4.4e-05)
- Structural context available