S88Y (p.Ser88Tyr) variant of SERPINC1 (Antithrombin-III)
S88Y (p.Ser88Tyr) in SERPINC1 (Antithrombin-III) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
S88Y (p.Ser88Tyr) variant details
- p.Ser88Tyr
- cosmic curated COSV10591
- ExAC rs775520108
- gnomAD rs775520108
- Missense
- Variant Prioritization Score for Impact Estimate 0.647
- REVEL 0.67
- CADD 26.60
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available