S122C (p.Ser122Cys) variant of PROS1 (Vitamin K-dependent protein S)
S122C (p.Ser122Cys) in PROS1 (Vitamin K-dependent protein S) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data.
S122C (p.Ser122Cys) variant details
- p.Ser122Cys
- ExAC rs774133229
- gnomAD rs774133229
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.36
- CADD 22.20
- PolyPhen-2 0.67
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)