F325L (p.Phe325Leu) variant of HNRNPA1 (P09651)
F325L (p.Phe325Leu) 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 0.55 / 1. The record also includes structural context.
F325L (p.Phe325Leu) variant details
- p.Phe325Leu
- rs483353028
- ClinGen CA163041
- ClinVar RCV000122443
- Ensembl rs483353028
- Pathogenic
- Chronic progressive multiple sclerosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.547
- AlphaMissense 0.99
- MetaLR 0.60
- MetaSVM 0.27
- PolyPhen-2 0.21
- SIFT 0.01
- MutPred 0.34
- ClinVar: Pathogenic (Chronic progressive multiple sclerosis)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available