P13Q (p.Pro13Gln) variant of INSR (Insulin receptor)
P13Q (p.Pro13Gln) in INSR (Insulin receptor) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
P13Q (p.Pro13Gln) variant details
- p.Pro13Gln
- TOPMed rs1023611589
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.22
- MetaLR 0.21
- MetaSVM -0.92
- CADD 16.40
- PolyPhen-2 0.23
- SIFT 0.31
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 8e-05)
- Structural context available