P52T (p.Pro52Thr) variant of INS (Insulin)
P52T (p.Pro52Thr) in INS (Insulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
P52T (p.Pro52Thr) variant details
- p.Pro52Thr
- TOPMed rs1460766978
- gnomAD rs1460766978
- Missense
- Variant Prioritization Score for Impact Estimate 0.726
- REVEL 0.73
- MetaLR 0.84
- MetaSVM 0.81
- CADD 24.30
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available