R89H (p.Arg89His) variant of SERPINC1 (Antithrombin-III)
R89H (p.Arg89His) 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 0.27 / 1. The record also includes population frequency data and structural context.
R89H (p.Arg89His) variant details
- p.Arg89His
- rs745583962
- NCI-TCGA Cosmic COSV6292
- cosmic curated COSV62929
- Variant assessed as somatic; moderate impact.
- in AT3D
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.21
- CADD 17.10
- PolyPhen-2 0.12
- SIFT 0.13
- UniProt: Variant assessed as somatic; moderate impact. (in AT3D)
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available