P37L (p.Pro37Leu) variant of FGA (Fibrinogen alpha chain)
P37L (p.Pro37Leu) in FGA (Fibrinogen alpha chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as other in the context of FIBRINOGEN KYOTO 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes published literature.
P37L (p.Pro37Leu) variant details
- p.Pro37Leu
- rs121909609
- ClinGen CA126474
- ClinVar RCV000017844
- UniProt VAR 002394
- other
- FIBRINOGEN KYOTO 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- AlphaMissense 0.39
- MetaLR 0.45
- MetaSVM -0.10
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.86
- ClinVar: other (FIBRINOGEN KYOTO 2)
- EBI: Benign (in Kyoto-2)
- UniProt: Benign (in Kyoto-2)
- Cited in: Fibrinogen Kyoto II, a new congenitally abnormal molecule, characterized by the replacement of A alpha proline-18 by… (PMID 2070049)