R6Q (p.Arg6Gln) variant of INSR (Insulin receptor)
R6Q (p.Arg6Gln) in INSR (Insulin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
R6Q (p.Arg6Gln) variant details
- p.Arg6Gln
- gnomAD rs1968567099
- Missense
- Variant Prioritization Score for Impact Estimate 0.161
- REVEL 0.14
- MetaLR 0.20
- MetaSVM -0.91
- CADD 9.38
- PolyPhen-2 0.00
- SIFT 0.39
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available