R162H (p.Arg162His) variant of INSR (Insulin receptor)
R162H (p.Arg162His) in INSR (Insulin receptor) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
R162H (p.Arg162His) variant details
- p.Arg162His
- ExAC rs767746469
- TOPMed rs767746469
- gnomAD rs767746469
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- REVEL 0.26
- MetaLR 0.36
- MetaSVM -0.54
- CADD 23.10
- PolyPhen-2 0.18
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available