F348L (p.Phe348Leu) variant of HNRNPA1 (P09651)
F348L (p.Phe348Leu) in HNRNPA1 (P09651) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Chronic progressive multiple sclerosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
F348L (p.Phe348Leu) variant details
- p.Phe348Leu
- rs483353035
- ClinGen CA163071
- ClinVar RCV000122453
- Ensembl rs483353035
- Likely pathogenic
- Chronic progressive multiple sclerosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.23
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.09
- ClinVar: Likely pathogenic (Chronic progressive multiple sclerosis)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available