V657F (p.Val657Phe) variant of INSR (Insulin receptor)
V657F (p.Val657Phe) in INSR (Insulin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as no classification for the single variant in the context of in LEPRCH. The record also includes published literature and structural context.
V657F (p.Val657Phe) variant details
- p.Val657Phe
- rs1135401737
- ClinVar RCV000496605
- UniProt VAR 079540
- Ensembl rs1135401737
- no classification for the single variant
- in LEPRCH
- Missense
- ClinVar: no classification for the single variant (in LEPRCH)
- EBI: Pathogenic (in LEPRCH)
- UniProt: Pathogenic (in LEPRCH)
- Structural context available
- Cited in: Structural Basis and Genotype-Phenotype Correlations of INSR Mutations Causing Severe Insulin Resistance. (PMID 28765322)
- Cited in: Genotype-phenotype correlation in inherited severe insulin resistance. (PMID 12023989)