N117K (p.Asn117Lys) variant of INSR (Insulin receptor)
N117K (p.Asn117Lys) in INSR (Insulin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
N117K (p.Asn117Lys) variant details
- p.Asn117Lys
- TOPMed rs1967779724
- gnomAD rs1967779724
- Missense
- Variant Prioritization Score for Impact Estimate 0.552
- REVEL 0.63
- MetaLR 0.60
- MetaSVM 0.13
- CADD 24.60
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available