S14I (p.Ser14Ile) variant of IRS2 (Insulin receptor substrate 2)
S14I (p.Ser14Ile) in IRS2 (Insulin receptor substrate 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
S14I (p.Ser14Ile) variant details
- p.Ser14Ile
- TOPMed rs1309855258
- gnomAD rs1309855258
- Missense
- Variant Prioritization Score for Impact Estimate 0.0962
- REVEL 0.02
- CADD 6.84
- PolyPhen-2 0.01
- SIFT 0.10
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available