I62V (p.Ile62Val) variant of INSR (Insulin receptor)
I62V (p.Ile62Val) in INSR (Insulin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
I62V (p.Ile62Val) variant details
- p.Ile62Val
- ExAC rs767255267
- gnomAD rs767255267
- Missense
- Variant Prioritization Score for Impact Estimate 0.715
- REVEL 0.74
- MetaLR 0.78
- MetaSVM 0.69
- CADD 25.20
- PolyPhen-2 0.89
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available