G18S (p.Gly18Ser) variant of PROC (Vitamin K-dependent protein C)
G18S (p.Gly18Ser) 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 0.34 / 1. The record also includes population frequency data and structural context.
G18S (p.Gly18Ser) variant details
- p.Gly18Ser
- cosmic curated COSV10509
- 1000Genomes rs146793243
- ESP rs146793243
- ExAC rs146793243
- Uncertain significance
- Thrombophilia due to protein C deficiency, autosomal recessive; Thrombophilia du
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.54
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Thrombophilia due to protein C deficiency, autosomal recessive;)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:PATHAN population (allele frequency 0.021)
- Structural context available