S101F (p.Ser101Phe) variant of SERPINC1 (Antithrombin-III)
S101F (p.Ser101Phe) in SERPINC1 (Antithrombin-III) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
S101F (p.Ser101Phe) variant details
- p.Ser101Phe
- rs199895690
- NCI-TCGA Cosmic COSV6292
- cosmic curated COSV62929
- 1000Genomes rs199895690
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.41
- CADD 21.90
- PolyPhen-2 0.08
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 5e-05)
- Structural context available