L110M (p.Leu110Met) variant of SERPINC1 (Antithrombin-III)
L110M (p.Leu110Met) in SERPINC1 (Antithrombin-III) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
L110M (p.Leu110Met) variant details
- p.Leu110Met
- gnomAD rs1412230387
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.19
- CADD 19.80
- PolyPhen-2 0.11
- SIFT 0.68
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available