T82A (p.Thr82Ala) variant of FGA (Fibrinogen alpha chain)
T82A (p.Thr82Ala) in FGA (Fibrinogen alpha chain) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data.
T82A (p.Thr82Ala) variant details
- p.Thr82Ala
- ESP rs199554805
- ExAC rs199554805
- TOPMed rs199554805
- gnomAD rs199554805
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- REVEL 0.32
- CADD 22.30
- PolyPhen-2 0.14
- SIFT 0.03
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)