P51S (p.Pro51Ser) variant of SERPINC1 (Antithrombin-III)
P51S (p.Pro51Ser) in SERPINC1 (Antithrombin-III) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
P51S (p.Pro51Ser) variant details
- p.Pro51Ser
- TOPMed rs1657921607
- gnomAD rs1657921607
- Missense
- Variant Prioritization Score for Impact Estimate 0.711
- REVEL 0.66
- CADD 27.10
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available