L50M (p.Leu50Met) variant of INSR (Insulin receptor)
L50M (p.Leu50Met) in INSR (Insulin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
L50M (p.Leu50Met) variant details
- p.Leu50Met
- ExAC rs757849386
- TOPMed rs757849386
- gnomAD rs757849386
- Missense
- Variant Prioritization Score for Impact Estimate 0.624
- REVEL 0.73
- MetaLR 0.68
- MetaSVM 0.38
- CADD 23.90
- PolyPhen-2 0.91
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available