H55Q (p.His55Gln) variant of IRS1 (Insulin receptor substrate 1)
H55Q (p.His55Gln) 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 0.45 / 1. The record also includes population frequency data.
H55Q (p.His55Gln) variant details
- p.His55Gln
- rs1251747307
- NCI-TCGA Cosmic COSV1005
- gnomAD rs1251747307
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.28
- CADD 25.70
- PolyPhen-2 0.76
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:MSL population (allele frequency 0.013)