P305L (p.Pro305Leu) variant of SERPINC1 (Antithrombin-III)
P305L (p.Pro305Leu) in SERPINC1 (Antithrombin-III) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary antithrombin deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data and structural context.
P305L (p.Pro305Leu) variant details
- p.Pro305Leu
- 1000Genomes rs549991084
- ExAC rs549991084
- TOPMed rs549991084
- gnomAD rs549991084
- Likely pathogenic
- Hereditary antithrombin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.896
- REVEL 0.96
- MetaLR 0.88
- MetaSVM 0.98
- CADD 28.40
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Likely pathogenic (Hereditary antithrombin deficiency)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available