C98Y (p.Cys98Tyr) variant of F12 (Coagulation factor XII)
C98Y (p.Cys98Tyr) in F12 (Coagulation factor XII) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Hereditary angioedema type 3; Factor XII deficiency dis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
C98Y (p.Cys98Tyr) variant details
- p.Cys98Tyr
- rs770412757
- ClinGen CA3581528
- ClinVar RCV001158008
- ClinVar RCV001158009
- Conflicting interpretations
- Inborn genetic diseases; Hereditary angioedema type 3; Factor XII deficiency dis
- Missense
- Variant Prioritization Score for Impact Estimate 0.817
- REVEL 0.85
- CADD 25.30
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Hereditary angioedema type 3; Factor XI)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 8.3e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)