S7I (p.Ser7Ile) variant of VKORC1 (Q9BQB6)
S7I (p.Ser7Ile) in VKORC1 (Q9BQB6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
S7I (p.Ser7Ile) variant details
- p.Ser7Ile
- ExAC rs755166588
- TOPMed rs755166588
- gnomAD rs755166588
- Missense
- Variant Prioritization Score for Impact Estimate 0.189
- REVEL 0.22
- CADD 10.80
- PolyPhen-2 0.00
- SIFT 0.39
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available