A119V (p.Ala119Val) variant of INSR (Insulin receptor)
A119V (p.Ala119Val) in INSR (Insulin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of INSR-related disorder; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
A119V (p.Ala119Val) variant details
- p.Ala119Val
- rs1347473020
- ClinGen CA403159910
- cosmic curated COSV10610
- ClinVar RCV002638095
- Conflicting interpretations
- INSR-related disorder; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.869
- REVEL 0.93
- MetaLR 0.83
- MetaSVM 0.91
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (INSR-related disorder; not provided)
- EBI: Pathogenic (in LEPRCH)
- UniProt: Pathogenic (in LEPRCH)
- Most common in the REMAINING population (allele frequency 5e-05)
- Structural context available
- Cited in: Genotype-phenotype correlation in inherited severe insulin resistance. (PMID 12023989)
- Cited in: Deletion of V335 from the L2 domain of the insulin receptor results in a conformationally abnormal receptor that is… (PMID 12538626)