S7I (p.Ser7Ile) variant of IRS1 (Insulin receptor substrate 1)
S7I (p.Ser7Ile) in IRS1 (Insulin receptor substrate 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data.
S7I (p.Ser7Ile) variant details
- p.Ser7Ile
- Ensembl rs1939816815
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.06
- CADD 20.80
- PolyPhen-2 0.01
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)