Q70R (p.Gln70Arg) variant of SERPINC1 (Antithrombin-III)
Q70R (p.Gln70Arg) in SERPINC1 (Antithrombin-III) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
Q70R (p.Gln70Arg) variant details
- p.Gln70Arg
- TOPMed rs1050200480
- gnomAD rs1050200480
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.15
- CADD 17.40
- PolyPhen-2 0.01
- SIFT 0.06
- Most common in the Amish population (allele frequency 0.0011)
- Structural context available