R41W (p.Arg41Trp) variant of INSR (Insulin receptor)
R41W (p.Arg41Trp) in INSR (Insulin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Leprechaunism syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
R41W (p.Arg41Trp) variant details
- p.Arg41Trp
- gnomAD rs1246915228
- Likely pathogenic
- Leprechaunism syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.785
- REVEL 0.95
- MetaLR 0.66
- MetaSVM 0.41
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Leprechaunism syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available