Y140C (p.Tyr140Cys) variant of FGG (Fibrinogen gamma chain)
Y140C (p.Tyr140Cys) in FGG (Fibrinogen gamma chain) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
Y140C (p.Tyr140Cys) variant details
- p.Tyr140Cys
- TOPMed rs1353074807
- gnomAD rs1353074807
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.484
- REVEL 0.45
- CADD 23.30
- PolyPhen-2 0.95
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance (in dbSNP:rs2066870)
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available