L23F (p.Leu23Phe) variant of SERPINC1 (Antithrombin-III)
L23F (p.Leu23Phe) in SERPINC1 (Antithrombin-III) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact in the context of in AT3D. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
L23F (p.Leu23Phe) variant details
- p.Leu23Phe
- NCI-TCGA Cosmic COSV6292
- cosmic curated COSV62928
- Variant assessed as somatic; moderate impact.
- in AT3D
- Missense
- Variant Prioritization Score for Impact Estimate 0.596
- REVEL 0.48
- CADD 19.30
- PolyPhen-2 0.34
- SIFT 0.08
- UniProt: Variant assessed as somatic; moderate impact. (in AT3D)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available