H33Q (p.His33Gln) variant of SERPINC1 (Antithrombin-III)
H33Q (p.His33Gln) in SERPINC1 (Antithrombin-III) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
H33Q (p.His33Gln) variant details
- p.His33Gln
- ESP rs147676453
- ExAC rs147676453
- TOPMed rs147676453
- gnomAD rs147676453
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.173
- REVEL 0.26
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.20
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available