S42R (p.Ser42Arg) variant of FGB (Fibrinogen beta chain)
S42R (p.Ser42Arg) in FGB (Fibrinogen beta chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
S42R (p.Ser42Arg) variant details
- p.Ser42Arg
- gnomAD 4-154565819-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.118
- REVEL 0.07
- CADD 16.40
- PolyPhen-2 0.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available