R89L (p.Arg89Leu) variant of SERPINC1 (Antithrombin-III)
R89L (p.Arg89Leu) in SERPINC1 (Antithrombin-III) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Hereditary antithrombin deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
R89L (p.Arg89Leu) variant details
- p.Arg89Leu
- cosmic curated COSV62929
- ExAC rs745583962
- TOPMed rs745583962
- gnomAD rs745583962
- Uncertain significance
- Hereditary antithrombin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- REVEL 0.51
- CADD 20.90
- PolyPhen-2 0.13
- SIFT 0.03
- ClinVar: Uncertain significance (Hereditary antithrombin deficiency)
- UniProt: Uncertain significance (in AT3D)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available