F333L (p.Phe333Leu) variant of HNRNPA1 (P09651)
F333L (p.Phe333Leu) in HNRNPA1 (P09651) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Chronic progressive multiple sclerosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes structural context.
F333L (p.Phe333Leu) variant details
- p.Phe333Leu
- rs483353031
- ClinGen CA163059
- ClinVar RCV000122449
- Ensembl rs483353031
- Pathogenic
- Chronic progressive multiple sclerosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- AlphaMissense 0.96
- MetaLR 0.58
- MetaSVM -0.13
- PolyPhen-2 0.12
- SIFT 0.10
- MutPred 0.35
- ClinVar: Pathogenic (Chronic progressive multiple sclerosis)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available