K56N (p.Lys56Asn) variant of IRS1 (Insulin receptor substrate 1)
K56N (p.Lys56Asn) in IRS1 (Insulin receptor substrate 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data.
K56N (p.Lys56Asn) variant details
- p.Lys56Asn
- ExAC rs780154777
- gnomAD rs780154777
- Missense
- Variant Prioritization Score for Impact Estimate 0.56
- REVEL 0.40
- CADD 26.70
- PolyPhen-2 0.82
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)