P118L (p.Pro118Leu) variant of PROS1 (Vitamin K-dependent protein S)
P118L (p.Pro118Leu) in PROS1 (Vitamin K-dependent protein S) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Protein S deficiency disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data.
P118L (p.Pro118Leu) variant details
- p.Pro118Leu
- rs761574063
- ClinGen CA2503502
- ClinVar RCV000851642
- ExAC rs761574063
- Likely pathogenic
- Protein S deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- REVEL 0.36
- CADD 24.90
- PolyPhen-2 0.22
- SIFT 0.01
- ClinVar: Likely pathogenic (Protein S deficiency disease)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the South Asian population (allele frequency 0.0001)