R561W (p.Arg561Trp) variant of PROS1 (Vitamin K-dependent protein S)
R561W (p.Arg561Trp) in PROS1 (Vitamin K-dependent protein S) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Thrombophilia due to protein S deficiency, autosomal recessive; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
R561W (p.Arg561Trp) variant details
- p.Arg561Trp
- rs121918476
- ClinGen CA350250
- ClinVar RCV000206188
- ClinVar RCV006277748
- Pathogenic
- Thrombophilia due to protein S deficiency, autosomal recessive; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- REVEL 0.45
- AlphaMissense 0.17
- MetaLR 0.63
- MetaSVM -0.08
- CADD 23.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Thrombophilia due to protein S deficiency, autosomal recessive;)
- EBI: Pathogenic (in THPH5)
- UniProt: Pathogenic (in THPH5)
- Most common in the East Asian population (allele frequency 0.00039)
- Structural context available