E6K (p.Glu6Lys) variant of IRS1 (Insulin receptor substrate 1)
E6K (p.Glu6Lys) in IRS1 (Insulin receptor substrate 1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data.
E6K (p.Glu6Lys) variant details
- p.Glu6Lys
- rs1412843577
- gnomAD rs1412843577
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.06
- CADD 22.40
- PolyPhen-2 0.01
- SIFT 0.56
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)