I172N (p.Ile172Asn) variant of INSR (Insulin receptor)
I172N (p.Ile172Asn) in INSR (Insulin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
I172N (p.Ile172Asn) variant details
- p.Ile172Asn
- ESP rs147233169
- TOPMed rs147233169
- Missense
- Variant Prioritization Score for Impact Estimate 0.779
- REVEL 0.89
- MetaLR 0.72
- MetaSVM 0.58
- CADD 26.70
- PolyPhen-2 0.89
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available