P20H (p.Pro20His) variant of PROS1 (Vitamin K-dependent protein S)
P20H (p.Pro20His) in PROS1 (Vitamin K-dependent protein S) 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.
P20H (p.Pro20His) variant details
- p.Pro20His
- TOPMed rs1709918238
- gnomAD rs1709918238
- Missense
- Variant Prioritization Score for Impact Estimate 0.517
- REVEL 0.44
- AlphaMissense 0.16
- MetaLR 0.83
- MetaSVM 0.37
- CADD 19.90
- PolyPhen-2 0.99
- Most common in the African/African-American population (allele frequency 2.4e-05)