I24T (p.Ile24Thr) variant of SERPINC1 (Antithrombin-III)
I24T (p.Ile24Thr) in SERPINC1 (Antithrombin-III) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
I24T (p.Ile24Thr) variant details
- p.Ile24Thr
- gnomAD rs1211286118
- Missense
- Variant Prioritization Score for Impact Estimate 0.191
- REVEL 0.21
- CADD 12.40
- PolyPhen-2 0.00
- SIFT 0.10
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available