V18A (p.Val18Ala) variant of PROS1 (Vitamin K-dependent protein S)
V18A (p.Val18Ala) in PROS1 (Vitamin K-dependent protein S) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data.
V18A (p.Val18Ala) variant details
- p.Val18Ala
- TOPMed rs1162049144
- gnomAD rs1162049144
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.19
- CADD 13.00
- PolyPhen-2 0.01
- SIFT 0.21
- Most common in the East Asian population (allele frequency 2.5e-05)