K43N (p.Lys43Asn) variant of SERPINC1 (Antithrombin-III)
K43N (p.Lys43Asn) in SERPINC1 (Antithrombin-III) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
K43N (p.Lys43Asn) variant details
- p.Lys43Asn
- rs761729771
- NCI-TCGA Cosmic COSV6292
- cosmic curated COSV62929
- ExAC rs761729771
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.523
- REVEL 0.63
- CADD 24.20
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00011)
- Structural context available