L14S (p.Leu14Ser) variant of F12 (Coagulation factor XII)
L14S (p.Leu14Ser) 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; not provided; Hereditary angioedema type 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
L14S (p.Leu14Ser) variant details
- p.Leu14Ser
- rs143809932
- ClinGen CA3581650
- ClinVar RCV001263432
- ClinVar RCV002069380
- Conflicting interpretations
- Inborn genetic diseases; not provided; Hereditary angioedema type 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.567
- REVEL 0.59
- CADD 24.60
- PolyPhen-2 0.87
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided; Hereditary angioedema typ)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:PALESTINIAN population (allele frequency 0.013)
- 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)