C113F (p.Cys113Phe) variant of PROS1 (Vitamin K-dependent protein S)
C113F (p.Cys113Phe) in PROS1 (Vitamin K-dependent protein S) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Thrombophilia due to protein S deficiency, autosomal recessive. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data.
C113F (p.Cys113Phe) variant details
- p.Cys113Phe
- ExAC rs757418321
- gnomAD rs757418321
- Uncertain significance
- not provided; Thrombophilia due to protein S deficiency, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.857
- REVEL 0.91
- CADD 26.60
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Thrombophilia due to protein S deficiency, autosom)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)