R69K (p.Arg69Lys) variant of FGA (Fibrinogen alpha chain)
R69K (p.Arg69Lys) in FGA (Fibrinogen alpha chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and published literature.
R69K (p.Arg69Lys) variant details
- p.Arg69Lys
- rs1366944551
- ClinGen CA358533420
- cosmic curated COSV10964
- ClinVar RCV004393923
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.687
- REVEL 0.61
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00015)
- 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)