R7Q (p.Arg7Gln) variant of INSR (Insulin receptor)
R7Q (p.Arg7Gln) in INSR (Insulin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
R7Q (p.Arg7Gln) variant details
- p.Arg7Gln
- TOPMed rs979150286
- gnomAD rs979150286
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- REVEL 0.07
- MetaLR 0.22
- MetaSVM -0.94
- CADD 14.10
- PolyPhen-2 0.00
- SIFT 0.14
- Most common in the HGDP:BIAKA population (allele frequency 0.023)
- Structural context available