P79L (p.Pro79Leu) variant of INSR (Insulin receptor)
P79L (p.Pro79Leu) in INSR (Insulin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
P79L (p.Pro79Leu) variant details
- p.Pro79Leu
- TOPMed rs1331668429
- gnomAD rs1331668429
- Missense
- Variant Prioritization Score for Impact Estimate 0.753
- REVEL 0.78
- MetaLR 0.61
- MetaSVM 0.29
- CADD 27.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available