A120V (p.Ala120Val) variant of FGA (Fibrinogen alpha chain)
A120V (p.Ala120Val) in FGA (Fibrinogen alpha chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; FGA-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data.
A120V (p.Ala120Val) variant details
- p.Ala120Val
- rs1463254197
- ClinGen CA358533029
- ClinVar RCV003994543
- ClinVar RCV004529737
- Uncertain significance
- not specified; FGA-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.20
- CADD 15.10
- PolyPhen-2 0.24
- SIFT 0.01
- ClinVar: Uncertain significance (not specified; FGA-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)