D63E (p.Asp63Glu) variant of FGG (Fibrinogen gamma chain)
D63E (p.Asp63Glu) in FGG (Fibrinogen gamma chain) is a missense change. Clinical records from ClinVar, EBI, 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 0.29 / 1. The record also includes population frequency data and structural context.
D63E (p.Asp63Glu) variant details
- p.Asp63Glu
- rs145914446
- ClinGen CA3115713
- cosmic curated COSV60196
- ClinVar RCV003737488
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.10
- CADD 15.30
- PolyPhen-2 0.01
- SIFT 0.19
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CHB population (allele frequency 0.0049)
- Structural context available