K102M (p.Lys102Met) variant of SERPINC1 (Antithrombin-III)
K102M (p.Lys102Met) in SERPINC1 (Antithrombin-III) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
K102M (p.Lys102Met) variant details
- p.Lys102Met
- TOPMed rs933978627
- gnomAD rs933978627
- Missense
- Variant Prioritization Score for Impact Estimate 0.721
- REVEL 0.77
- CADD 27.10
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available