N38K (p.Asn38Lys) variant of F9 (Coagulation factor IX)
N38K (p.Asn38Lys) in F9 (Coagulation factor IX) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
N38K (p.Asn38Lys) variant details
- p.Asn38Lys
- 1000Genomes rs745353370
- ExAC rs745353370
- TOPMed rs745353370
- gnomAD rs745353370
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.28
- MetaLR 0.60
- MetaSVM -0.13
- CADD 14.60
- PolyPhen-2 0.29
- SIFT 0.08
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 3.8e-05)
- Structural context available