A100S (p.Ala100Ser) variant of PROS1 (Vitamin K-dependent protein S)
A100S (p.Ala100Ser) in PROS1 (Vitamin K-dependent protein S) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data.
A100S (p.Ala100Ser) variant details
- p.Ala100Ser
- gnomAD rs1457029951
- Missense
- Variant Prioritization Score for Impact Estimate 0.169
- REVEL 0.13
- CADD 11.50
- PolyPhen-2 0.01
- SIFT 0.35
- Most common in the South Asian population (allele frequency 1.2e-05)