N105S (p.Asn105Ser) variant of SERPINC1 (Antithrombin-III)
N105S (p.Asn105Ser) in SERPINC1 (Antithrombin-III) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
N105S (p.Asn105Ser) variant details
- p.Asn105Ser
- ExAC rs757851817
- gnomAD rs757851817
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.06
- CADD 10.60
- PolyPhen-2 0.00
- SIFT 0.52
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available