L131F (p.Leu131Phe) variant of SERPINC1 (Antithrombin-III)
L131F (p.Leu131Phe) in SERPINC1 (Antithrombin-III) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hereditary antithrombin deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
L131F (p.Leu131Phe) variant details
- p.Leu131Phe
- rs121909567
- ClinGen CA210787
- ClinVar RCV000019650
- ClinVar RCV000851769
- Pathogenic
- Hereditary antithrombin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.823
- REVEL 0.85
- AlphaMissense 0.79
- MetaLR 0.78
- MetaSVM 0.63
- CADD 29.60
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Hereditary antithrombin deficiency)
- EBI: Pathogenic (in AT3D)
- UniProt: Pathogenic (in AT3D)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Antithrombin Budapest 3. An antithrombin variant with reduced heparin affinity resulting from the substitution L99F. (PMID 1555650)
- Cited in: Antithrombin III Padua 2: a single base substitution in exon 2 detected with PCR and direct genomic sequencing. (PMID 2336381)