Y17C (p.Tyr17Cys) variant of SERPINC1 (Antithrombin-III)
Y17C (p.Tyr17Cys) in SERPINC1 (Antithrombin-III) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
Y17C (p.Tyr17Cys) variant details
- p.Tyr17Cys
- ExAC rs780733720
- gnomAD rs780733720
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.27
- CADD 4.72
- PolyPhen-2 0.00
- SIFT 0.19
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available