R7S (p.Arg7Ser) variant of PROS1 (Vitamin K-dependent protein S)
R7S (p.Arg7Ser) in PROS1 (Vitamin K-dependent protein S) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data.
R7S (p.Arg7Ser) variant details
- p.Arg7Ser
- gnomAD rs1219702552
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.22
- CADD 14.30
- PolyPhen-2 0.01
- SIFT 0.10
- Most common in the South Asian population (allele frequency 5.8e-05)