L120H (p.Leu120His) variant of F12 (Coagulation factor XII)
L120H (p.Leu120His) 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 Inborn genetic diseases; Factor XII deficiency disease; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
L120H (p.Leu120His) variant details
- p.Leu120His
- rs41309750
- ClinGen CA3581516
- ClinVar RCV002606172
- ClinVar RCV002606173
- Uncertain significance
- Inborn genetic diseases; Factor XII deficiency disease; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- REVEL 0.50
- CADD 24.50
- PolyPhen-2 0.91
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases; Factor XII deficiency disease; not prov)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:ADYGEI population (allele frequency 0.029)
- 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)