T82P (p.Thr82Pro) variant of FGA (Fibrinogen alpha chain)
T82P (p.Thr82Pro) in FGA (Fibrinogen alpha chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Congenital afibrinogenemia; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data.
T82P (p.Thr82Pro) variant details
- p.Thr82Pro
- rs199554805
- ClinGen CA3115349
- ClinVar RCV000344051
- ClinVar RCV000404726
- Conflicting interpretations
- not specified; Congenital afibrinogenemia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.612
- REVEL 0.59
- CADD 26.20
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not specified; Congenital afibrinogenemia; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:ADYGEI population (allele frequency 0.029)