N149K (p.Asn149Lys) variant of FGG (Fibrinogen gamma chain)
N149K (p.Asn149Lys) 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 Thromboembolism. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
N149K (p.Asn149Lys) variant details
- p.Asn149Lys
- rs751435976
- ClinGen CA3115648
- ClinVar RCV000851796
- ExAC rs751435976
- Uncertain significance
- Thromboembolism
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.21
- CADD 11.60
- PolyPhen-2 0.17
- SIFT 1.00
- ClinVar: Uncertain significance (Thromboembolism)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available