S88C (p.Ser88Cys) variant of SERPINC1 (Antithrombin-III)
S88C (p.Ser88Cys) in SERPINC1 (Antithrombin-III) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
S88C (p.Ser88Cys) variant details
- p.Ser88Cys
- ExAC rs775520108
- gnomAD rs775520108
- Missense
- Variant Prioritization Score for Impact Estimate 0.618
- REVEL 0.61
- CADD 26.90
- PolyPhen-2 0.93
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available