S74N (p.Ser74Asn) variant of VKORC1 (Q9BQB6)
S74N (p.Ser74Asn) in VKORC1 (Q9BQB6) is a missense change. 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.
S74N (p.Ser74Asn) variant details
- p.Ser74Asn
- gnomAD rs1378784538
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- REVEL 0.46
- CADD 19.50
- PolyPhen-2 0.29
- SIFT 0.11
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available