S142A (p.Ser142Ala) variant of FGG (Fibrinogen gamma chain)
S142A (p.Ser142Ala) in FGG (Fibrinogen gamma chain) is a missense change. Clinical records from ClinVar 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 0.17 / 1. The record also includes population frequency data and structural context.
S142A (p.Ser142Ala) variant details
- p.Ser142Ala
- TOPMed rs965542797
- gnomAD rs965542797
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.175
- REVEL 0.23
- CADD 2.19
- PolyPhen-2 0.09
- SIFT 0.26
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available