L70P (p.Leu70Pro) variant of VKORC1 (Q9BQB6)
L70P (p.Leu70Pro) in VKORC1 (Q9BQB6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
L70P (p.Leu70Pro) variant details
- p.Leu70Pro
- gnomAD 16-31093386-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.773
- REVEL 0.86
- CADD 28.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available