F49L (p.Phe49Leu) variant of INS (Insulin)
F49L (p.Phe49Leu) in INS (Insulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
F49L (p.Phe49Leu) variant details
- p.Phe49Leu
- rs148685531
- ClinGen CA123073
- ClinVar RCV000014306
- UniProt VAR 003973
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.775
- REVEL 0.86
- MetaLR 0.84
- MetaSVM 0.83
- CADD 26.50
- PolyPhen-2 0.95
- SIFT 0.03
- ClinVar: Uncertain significance (not specified)
- EBI: Pathogenic (in Chicago)
- UniProt: Pathogenic (in Chicago)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: A structurally abnormal insulin causing human diabetes. (PMID 381941)
- Cited in: Loss of a restriction endonuclease cleavage site in the gene of a structurally abnormal human insulin. (PMID 6261753)