I82T (p.Ile82Thr) variant of INSR (Insulin receptor)
I82T (p.Ile82Thr) in INSR (Insulin receptor) 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 and structural context.
I82T (p.Ile82Thr) variant details
- p.Ile82Thr
- ESP rs148554947
- TOPMed rs148554947
- gnomAD rs148554947
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- REVEL 0.19
- MetaLR 0.11
- MetaSVM -0.89
- CADD 14.40
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available