H48R (p.His48Arg) variant of INSR (Insulin receptor)
H48R (p.His48Arg) in INSR (Insulin receptor) is a missense change. Clinical records from ClinVar, EBI, 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 0.20 / 1. The record also includes population frequency data and structural context.
H48R (p.His48Arg) variant details
- p.His48Arg
- rs1364492874
- ClinGen CA403160632
- ClinVar RCV001960855
- gnomAD rs1364492874
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- REVEL 0.16
- MetaLR 0.21
- MetaSVM -0.91
- CADD 4.14
- PolyPhen-2 0.00
- SIFT 0.49
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available