P52S (p.Pro52Ser) variant of INS (Insulin)
P52S (p.Pro52Ser) in INS (Insulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
P52S (p.Pro52Ser) variant details
- p.Pro52Ser
- TOPMed rs1460766978
- gnomAD rs1460766978
- Missense
- Variant Prioritization Score for Impact Estimate 0.694
- REVEL 0.69
- MetaLR 0.80
- MetaSVM 0.70
- CADD 24.50
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available