P30T (p.Pro30Thr) variant of APOH (Beta-2-glycoprotein 1)
P30T (p.Pro30Thr) in APOH (Beta-2-glycoprotein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
P30T (p.Pro30Thr) variant details
- p.Pro30Thr
- TOPMed rs1433596837
- gnomAD rs1433596837
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.24
- CADD 18.10
- PolyPhen-2 0.30
- SIFT 0.17
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available