Y53C (p.Tyr53Cys) variant of F12 (Coagulation factor XII)
Y53C (p.Tyr53Cys) in F12 (Coagulation factor XII) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary angioedema type 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
Y53C (p.Tyr53Cys) variant details
- p.Tyr53Cys
- rs118204455
- ClinGen CA114815
- ClinVar RCV000778921
- ClinVar RCV001158012
- Uncertain significance
- Hereditary angioedema type 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- REVEL 0.60
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary angioedema type 3)
- EBI: Pathogenic (in FA12D)
- UniProt: Pathogenic (in FA12D)
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: Factor XII Tenri, a novel cross-reacting material negative factor XII deficiency, occurs through a proteasome-mediated… (PMID 10361128)
- Cited in: Identification and characterization of two novel mutations (Q421 K and R123P) in congenital factor XII deficiency. (PMID 11776307)