Y118N (p.Tyr118Asn) variant of INSR (Insulin receptor)
Y118N (p.Tyr118Asn) in INSR (Insulin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
Y118N (p.Tyr118Asn) variant details
- p.Tyr118Asn
- ExAC rs764030120
- gnomAD rs764030120
- Missense
- Variant Prioritization Score for Impact Estimate 0.808
- REVEL 0.91
- MetaLR 0.82
- MetaSVM 0.87
- CADD 26.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available