Y140H (p.Tyr140His) variant of FGG (Fibrinogen gamma chain)
Y140H (p.Tyr140His) in FGG (Fibrinogen gamma chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not provided; Congenital afibrinogenemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
Y140H (p.Tyr140His) variant details
- p.Tyr140His
- rs2066870
- ClinGen CA3115650
- ClinVar RCV000329738
- ClinVar RCV000946818
- Benign/Likely benign
- not provided; Congenital afibrinogenemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.26
- CADD 17.90
- PolyPhen-2 0.07
- SIFT 0.18
- ClinVar: Benign/Likely benign (not provided; Congenital afibrinogenemia)
- EBI: Benign (in dbSNP:rs2066870)
- UniProt: Benign (in dbSNP:rs2066870)
- Most common in the 1KG:GWD population (allele frequency 0.1)
- Structural context available
- Literature evidence available