H120R (p.His120Arg) variant of IRS1 (Insulin receptor substrate 1)
H120R (p.His120Arg) in IRS1 (Insulin receptor substrate 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data.
H120R (p.His120Arg) variant details
- p.His120Arg
- Ensembl rs1939797834
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.06
- CADD 22.70
- PolyPhen-2 0.04
- SIFT 0.09
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)