R123C (p.Arg123Cys) variant of FGA (Fibrinogen alpha chain)
R123C (p.Arg123Cys) in FGA (Fibrinogen alpha chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data.
R123C (p.Arg123Cys) variant details
- p.Arg123Cys
- cosmic curated COSV57395
- gnomAD rs1388949358
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.52
- CADD 9.49
- PolyPhen-2 0.43
- SIFT 0.17
- Most common in the REMAINING population (allele frequency 1.7e-05)