P36A (p.Pro36Ala) variant of INSR (Insulin receptor)
P36A (p.Pro36Ala) in INSR (Insulin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
P36A (p.Pro36Ala) variant details
- p.Pro36Ala
- cosmic curated COSV10025
- TOPMed rs796678604
- gnomAD rs796678604
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.5
- REVEL 0.37
- MetaLR 0.49
- MetaSVM -0.14
- CADD 21.70
- PolyPhen-2 0.15
- SIFT 0.04
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BIAKA population (allele frequency 0.023)
- Structural context available