R92Q (p.Arg92Gln) variant of INSR (Insulin receptor)
R92Q (p.Arg92Gln) in INSR (Insulin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
R92Q (p.Arg92Gln) variant details
- p.Arg92Gln
- ExAC rs777109581
- gnomAD rs777109581
- Missense
- Variant Prioritization Score for Impact Estimate 0.823
- REVEL 0.87
- MetaLR 0.69
- MetaSVM 0.53
- CADD 28.10
- PolyPhen-2 0.95
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available