R55W (p.Arg55Trp) variant of F12 (Coagulation factor XII)
R55W (p.Arg55Trp) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
R55W (p.Arg55Trp) variant details
- p.Arg55Trp
- rs201132135
- ClinGen CA3581596
- ClinVar RCV004385789
- ClinVar RCV006483882
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.18
- CADD 23.30
- PolyPhen-2 1.00
- SIFT 0.08
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)