S54C (p.Ser54Cys) variant of PROC (Vitamin K-dependent protein C)
S54C (p.Ser54Cys) in PROC (Vitamin K-dependent protein C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Thrombophilia due to protein C deficiency, autosomal recessive; Thrombophilia du. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
S54C (p.Ser54Cys) variant details
- p.Ser54Cys
- rs376049280
- ClinGen CA211721
- ClinVar RCV000148744
- ClinVar RCV002505135
- Uncertain significance
- Thrombophilia due to protein C deficiency, autosomal recessive; Thrombophilia du
- Missense
- Variant Prioritization Score for Impact Estimate 0.633
- REVEL 0.76
- CADD 23.40
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (Thrombophilia due to protein C deficiency, autosomal recessive;)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 6.6e-05)
- Structural context available