S101C (p.Ser101Cys) variant of SERPINC1 (Antithrombin-III)
S101C (p.Ser101Cys) in SERPINC1 (Antithrombin-III) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
S101C (p.Ser101Cys) variant details
- p.Ser101Cys
- 1000Genomes rs199895690
- ExAC rs199895690
- TOPMed rs199895690
- gnomAD rs199895690
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- REVEL 0.55
- CADD 23.40
- PolyPhen-2 0.77
- SIFT 0.02
- Most common in the HGDP:DRUZE population (allele frequency 0.014)
- Structural context available