L76V (p.Leu76Val) variant of INSR (Insulin receptor)
L76V (p.Leu76Val) in INSR (Insulin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
L76V (p.Leu76Val) variant details
- p.Leu76Val
- rs560460825
- ClinGen CA9136150
- ClinVar RCV003259881
- 1000Genomes rs560460825
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.541
- REVEL 0.46
- MetaLR 0.40
- MetaSVM -0.34
- CADD 22.90
- PolyPhen-2 0.20
- SIFT 0.05
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:STU population (allele frequency 0.0051)
- 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)