S11N (p.Ser11Asn) variant of F10 (Coagulation factor X)
S11N (p.Ser11Asn) in F10 (Coagulation factor X) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
S11N (p.Ser11Asn) variant details
- p.Ser11Asn
- ESP rs375632041
- ExAC rs375632041
- TOPMed rs375632041
- gnomAD rs375632041
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.23
- CADD 7.07
- PolyPhen-2 0.05
- SIFT 0.31
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available