H28Q (p.His28Gln) variant of INSR (Insulin receptor)
H28Q (p.His28Gln) 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 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
H28Q (p.His28Gln) variant details
- p.His28Gln
- rs755298967
- ClinGen CA403162512
- ClinVar RCV003580793
- ClinGen CA209132
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.10
- MetaLR 0.11
- MetaSVM -0.95
- CADD 17.20
- PolyPhen-2 0.14
- SIFT 0.53
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)