P30S (p.Pro30Ser) variant of APOH (Beta-2-glycoprotein 1)
P30S (p.Pro30Ser) in APOH (Beta-2-glycoprotein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
P30S (p.Pro30Ser) variant details
- p.Pro30Ser
- TOPMed rs1433596837
- gnomAD rs1433596837
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.22
- CADD 18.60
- PolyPhen-2 0.03
- SIFT 0.30
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available