N44K (p.Asn44Lys) variant of PROC (Vitamin K-dependent protein C)
N44K (p.Asn44Lys) in PROC (Vitamin K-dependent protein C) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
N44K (p.Asn44Lys) variant details
- p.Asn44Lys
- ExAC rs775598456
- TOPMed rs775598456
- gnomAD rs775598456
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.435
- REVEL 0.51
- CADD 21.90
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available