A301T (p.Ala301Thr) variant of PROC (Vitamin K-dependent protein C)
A301T (p.Ala301Thr) 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 not provided; Thrombophilia due to protein C deficiency, autosomal dominant; Her. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
A301T (p.Ala301Thr) variant details
- p.Ala301Thr
- rs1343264503
- ClinGen CA348404731
- NCI-TCGA Cosmic COSV5216
- cosmic curated COSV52165
- Uncertain significance
- not provided; Thrombophilia due to protein C deficiency, autosomal dominant; Her
- Missense
- Variant Prioritization Score for Impact Estimate 0.872
- REVEL 0.94
- CADD 25.30
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Thrombophilia due to protein C deficiency, autosomal dominant)
- EBI: Benign (in patients with PROC deficiency)
- UniProt: Benign (in patients with PROC deficiency)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Three novel mutations in the protein C (PROC) gene causing venous thrombosis. (PMID 7605880)