K102E (p.Lys102Glu) variant of SERPINC1 (Antithrombin-III)
K102E (p.Lys102Glu) in SERPINC1 (Antithrombin-III) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
K102E (p.Lys102Glu) variant details
- p.Lys102Glu
- gnomAD rs1287865349
- Missense
- Variant Prioritization Score for Impact Estimate 0.593
- REVEL 0.55
- CADD 26.80
- PolyPhen-2 0.90
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available