L21P (p.Leu21Pro) variant of INSR (Insulin receptor)
L21P (p.Leu21Pro) in INSR (Insulin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
L21P (p.Leu21Pro) variant details
- p.Leu21Pro
- rs1968564144
- ClinGen CA403162553
- ClinVar RCV003672259
- TOPMed rs1968564144
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.24
- MetaLR 0.29
- MetaSVM -0.77
- CADD 20.30
- PolyPhen-2 0.00
- SIFT 0.04
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.1e-06)
- Structural context available