E181K (p.Glu181Lys) variant of INSR (Insulin receptor)
E181K (p.Glu181Lys) in INSR (Insulin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
E181K (p.Glu181Lys) variant details
- p.Glu181Lys
- gnomAD rs1188129008
- Missense
- Variant Prioritization Score for Impact Estimate 0.773
- REVEL 0.74
- MetaLR 0.79
- MetaSVM 0.78
- CADD 26.60
- PolyPhen-2 0.99
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available