P13L (p.Pro13Leu) variant of INSR (Insulin receptor)
P13L (p.Pro13Leu) 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 0.27 / 1. The record also includes population frequency data and structural context.
P13L (p.Pro13Leu) variant details
- p.Pro13Leu
- rs1023611589
- ClinGen CA403162594
- cosmic curated COSV57163
- ClinVar RCV002639916
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.06
- MetaLR 0.20
- MetaSVM -0.86
- CADD 16.70
- PolyPhen-2 0.00
- SIFT 0.50
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3e-05)
- Structural context available