R78W (p.Arg78Trp) variant of SERPINC1 (Antithrombin-III)
R78W (p.Arg78Trp) 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 0.59 / 1. The record also includes population frequency data and structural context.
R78W (p.Arg78Trp) variant details
- p.Arg78Trp
- rs374205395
- cosmic curated COSV62930
- ESP rs374205395
- ExAC rs374205395
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.585
- REVEL 0.55
- CADD 29.20
- PolyPhen-2 0.58
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Middle Eastern population (allele frequency 0.00087)
- Structural context available