R38Q (p.Arg38Gln) variant of PROC (Vitamin K-dependent protein C)
R38Q (p.Arg38Gln) 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 0.52 / 1. The record also includes population frequency data and structural context.
R38Q (p.Arg38Gln) variant details
- p.Arg38Gln
- rs773107370
- ClinGen CA1859242
- cosmic curated COSV52165
- ClinVar RCV000984471
- Uncertain significance
- Thrombophilia due to protein C deficiency, autosomal recessive; Thrombophilia du
- Missense
- Variant Prioritization Score for Impact Estimate 0.519
- REVEL 0.53
- CADD 25.70
- PolyPhen-2 0.79
- SIFT 0.01
- ClinVar: Uncertain significance (Thrombophilia due to protein C deficiency, autosomal recessive;)
- EBI: Variant of uncertain significance (in patients with PROC deficiency)
- UniProt: Uncertain significance (in patients with PROC deficiency)
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available