K30R (p.Lys30Arg) variant of VKORC1 (Q9BQB6)
K30R (p.Lys30Arg) in VKORC1 (Q9BQB6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
K30R (p.Lys30Arg) variant details
- p.Lys30Arg
- ExAC rs780403529
- gnomAD rs780403529
- Missense
- Variant Prioritization Score for Impact Estimate 0.689
- REVEL 0.71
- CADD 28.30
- PolyPhen-2 0.80
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available