P53L (p.Pro53Leu) variant of IRS2 (Insulin receptor substrate 2)
P53L (p.Pro53Leu) in IRS2 (Insulin receptor substrate 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
P53L (p.Pro53Leu) variant details
- p.Pro53Leu
- Ensembl rs2138939539
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.13
- CADD 23.80
- PolyPhen-2 0.36
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9.4e-07)
- Structural context available