H253Q (p.His253Gln) variant of PROC (Vitamin K-dependent protein C)
H253Q (p.His253Gln) in PROC (Vitamin K-dependent protein C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Reduced protein C activity. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
H253Q (p.His253Gln) variant details
- p.His253Gln
- rs1458669732
- ClinGen CA348402392
- ClinVar RCV002245353
- UniProt VAR 006673
- Likely pathogenic
- Reduced protein C activity
- Missense
- Variant Prioritization Score for Impact Estimate 0.774
- REVEL 0.94
- CADD 23.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Reduced protein C activity)
- EBI: Likely pathogenic (in patients with PROC deficiency)
- UniProt: Likely pathogenic (in patients with PROC deficiency)
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Twelve novel and two recurrent mutations in 14 Austrian families with hereditary protein C deficiency. (PMID 8499565)