I6V (p.Ile6Val) variant of FGA (Fibrinogen alpha chain)
I6V (p.Ile6Val) in FGA (Fibrinogen alpha chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Congenital afibrinogenemia; not provided; Familial visceral amyloidosis, Osterta. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and published literature.
I6V (p.Ile6Val) variant details
- p.Ile6Val
- rs2070025
- ClinGen CA3115418
- cosmic curated COSV10738
- ClinVar RCV000309151
- Benign
- Congenital afibrinogenemia; not provided; Familial visceral amyloidosis, Osterta
- Missense
- Variant Prioritization Score for Impact Estimate 0.0712
- REVEL 0.04
- CADD 8.04
- PolyPhen-2 0.02
- SIFT 0.27
- ClinVar: Benign (Congenital afibrinogenemia; not provided; Familial visceral amyl)
- EBI: Benign (in dbSNP:rs2070025)
- UniProt: Benign (in dbSNP:rs2070025)
- Most common in the HGDP:DAI population (allele frequency 0.22)
- Literature evidence available