K52R (p.Lys52Arg) variant of IRS1 (Insulin receptor substrate 1)
K52R (p.Lys52Arg) in IRS1 (Insulin receptor substrate 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data.
K52R (p.Lys52Arg) variant details
- p.Lys52Arg
- gnomAD rs1939808529
- Missense
- Variant Prioritization Score for Impact Estimate 0.665
- REVEL 0.66
- CADD 31.00
- PolyPhen-2 0.85
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)