K123R (p.Lys123Arg) variant of SERPINC1 (Antithrombin-III)
K123R (p.Lys123Arg) in SERPINC1 (Antithrombin-III) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
K123R (p.Lys123Arg) variant details
- p.Lys123Arg
- gnomAD rs1288553458
- Missense
- Variant Prioritization Score for Impact Estimate 0.598
- REVEL 0.58
- CADD 25.00
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available